Variation Browser
DownloadReceptor | Position | GPCRdb | Segment | Variant | Mutation type | Allele Frequency | Allele Count | Allele Number | Homozygotes | SIFT score | PolyPhen score | Functional annotation |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Receptor | Position | GPCRdb | Segment | Variant | Mutation Type | Allele Frequency | Allele Count | Allele Number | Homozygotes | SIFT score | PolyPhen score | Functional annotation |
pi2r_human | 364 | C-term | Q => Ter | stop gained | 9.134e-06 | 1 | 109486 | 0 | None | None | ||
pi2r_human | 343 | C-term | E => AlafsTer47 | frameshift | 8.754e-06 | 1 | 114236 | 0 | None | None | ||
pi2r_human | 337 | C-term | S => LeufsTer55 | frameshift | 2.535e-05 | 3 | 118326 | 0 | None | None | PTM (Phosphorylation) | |
pi2r_human | 323 | C-term | L => PhefsTer69 | frameshift | 8.342e-06 | 1 | 119870 | 0 | None | None | ||
pi2r_human | 304 | 8.55x55 | H8 | K => GlnfsTer282 | frameshift | 8.388e-06 | 1 | 119214 | 0 | None | None | |
pi2r_human | 302 | 8.53x53 | H8 | R => Ter | stop gained | 2.52e-05 | 3 | 119048 | 0 | None | None | |
pi2r_human | 290 | 7.51x51 | TM7 | W => Ter | stop gained | 8.489e-06 | 1 | 117804 | 0 | None | None | |
pi2r_human | 163 | ECL2 | Q => Ter | stop gained | 0.0001103 | 5 | 45312 | 0 | None | None | ||
pi2r_human | 129 | 34.55x55 | ICL2 | Q => Ter | stop gained | 1.127e-05 | 1 | 88768 | 0 | None | None | GP (contact) |
pi2r_human | 100 | 3.33x33 | TM3 | T => IlefsTer166 | frameshift | 3.198e-05 | 2 | 62532 | 0 | None | None | |
pi2r_human | 382 | C-term | A => S | missense | 9.127e-06 | 1 | 109560 | 0 | nan | 0.012 | ||
pi2r_human | 382 | C-term | A => T | missense | 9.127e-06 | 1 | 109560 | 0 | nan | 0.122 | ||
pi2r_human | 381 | C-term | V => I | missense | 9.127e-06 | 1 | 109560 | 0 | nan | 0.041 | ||
pi2r_human | 374 | C-term | S => L | missense | 1.827e-05 | 2 | 109480 | 0 | nan | 0.0 | ||
pi2r_human | 373 | C-term | T => M | missense | 9.137e-06 | 1 | 109450 | 0 | 0.08 | 0.015 | ||
pi2r_human | 373 | C-term | T => R | missense | 9.137e-06 | 1 | 109450 | 0 | 0.0 | 0.138 | ||
pi2r_human | 371 | C-term | V => M | missense | 0.0001372 | 15 | 109312 | 0 | nan | 0.015 | ||
pi2r_human | 370 | C-term | A => T | missense | 8.229e-05 | 9 | 109372 | 0 | 1.0 | 0.0 | ||
pi2r_human | 369 | C-term | S => R | missense | 0.0002838 | 31 | 109228 | 0 | nan | 0.273 | ||
pi2r_human | 368 | C-term | G => S | missense | 9.14e-06 | 1 | 109414 | 0 | nan | 0.001 | ||
pi2r_human | 358 | C-term | E => K | missense | 2.74e-05 | 3 | 109480 | 0 | 0.01 | 0.0 | ||
pi2r_human | 355 | C-term | G => E | missense | 1.82e-05 | 2 | 109918 | 0 | nan | 0.013 | ||
pi2r_human | 354 | C-term | E => K | missense | 1.82e-05 | 2 | 109896 | 0 | nan | 0.003 | ||
pi2r_human | 353 | C-term | G => D | missense | 4.532e-05 | 5 | 110324 | 0 | 0.05 | 0.558 | ||
pi2r_human | 352 | C-term | W => G | missense | 9.018e-06 | 1 | 110890 | 0 | nan | 0.005 | ||
pi2r_human | 350 | C-term | S => L | missense | 5.376e-05 | 6 | 111606 | 0 | 0.0 | 0.122 | ||
pi2r_human | 350 | C-term | S => P | missense | 8.939e-06 | 1 | 111872 | 0 | nan | 0.006 | ||
pi2r_human | 348 | C-term | P => S | missense | 8.883e-06 | 1 | 112572 | 0 | 0.01 | 0.402 | ||
pi2r_human | 347 | C-term | V => L | missense | 8.846e-06 | 1 | 113040 | 0 | nan | 0.217 | ||
pi2r_human | 343 | C-term | E => K | missense | 3.465e-05 | 4 | 115442 | 0 | nan | 0.005 | ||
pi2r_human | 340 | C-term | V => A | missense | 5.984e-05 | 7 | 116976 | 0 | nan | 0.001 | ||
pi2r_human | 340 | C-term | V => M | missense | 1.708e-05 | 2 | 117094 | 0 | 0.14 | 0.073 | ||
pi2r_human | 338 | C-term | A => V | missense | 1.699e-05 | 2 | 117716 | 0 | 0.05 | 0.015 | ||
pi2r_human | 338 | C-term | A => S | missense | 8.489e-06 | 1 | 117800 | 0 | nan | 0.008 | ||
pi2r_human | 335 | C-term | A => D | missense | 2.527e-05 | 3 | 118712 | 0 | nan | 0.068 | ||
pi2r_human | 335 | C-term | A => T | missense | 1.685e-05 | 2 | 118702 | 0 | nan | 0.001 | ||
pi2r_human | 332 | C-term | D => E | missense | 8.387e-06 | 1 | 119232 | 0 | 0.06 | 0.055 | ||
pi2r_human | 330 | C-term | R => K | missense | 8.372e-06 | 1 | 119450 | 0 | 0.13 | 0.035 | ||
pi2r_human | 329 | C-term | G => R | missense | 1.673e-05 | 2 | 119578 | 0 | 0.14 | 0.003 | ||
pi2r_human | 324 | C-term | S => F | missense | 2.502e-05 | 3 | 119898 | 0 | 0.0 | 0.472 | ||
pi2r_human | 322 | C-term | P => S | missense | 8.342e-06 | 1 | 119870 | 0 | 0.2 | 0.002 | ||
pi2r_human | 319 | C-term | S => W | missense | 0.008438 | 1011 | 119814 | 41 | 0.03 | 0.712 | ||
pi2r_human | 319 | C-term | S => L | missense | 8.346e-06 | 1 | 119814 | 0 | 0.4 | 0.002 | ||
pi2r_human | 319 | C-term | S => P | missense | 8.346e-06 | 1 | 119824 | 0 | 0.22 | 0.002 | ||
pi2r_human | 318 | C-term | D => N | missense | 8.345e-06 | 1 | 119828 | 0 | 0.17 | 0.002 | ||
pi2r_human | 317 | C-term | G => R | missense | 5.009e-05 | 6 | 119796 | 0 | 0.07 | 0.002 | ||
pi2r_human | 315 | C-term | A => V | missense | 8.353e-06 | 1 | 119716 | 0 | 0.19 | 0.003 | ||
pi2r_human | 313 | C-term | G => R | missense | 0.0001003 | 12 | 119668 | 0 | 0.46 | 0.001 | ||
pi2r_human | 313 | C-term | G => R | missense | 3.343e-05 | 4 | 119668 | 0 | 0.46 | 0.001 | ||
pi2r_human | 312 | C-term | L => R | missense | 8.361e-06 | 1 | 119610 | 0 | 0.19 | 0.002 | ||
pi2r_human | 311 | C-term | C => F | missense | 8.363e-06 | 1 | 119568 | 0 | 0.44 | 0.027 | PTM (Palmitoylation) | |
pi2r_human | 308 | 8.59x59 | H8 | C => F | missense | 1.674e-05 | 2 | 119456 | 0 | 0.0 | 0.21 | PTM (Palmitoylation) |
pi2r_human | 302 | 8.53x53 | H8 | R => Q | missense | 2.52e-05 | 3 | 119070 | 0 | 0.03 | 0.01 | |
pi2r_human | 302 | 8.53x53 | H8 | R => P | missense | 8.398e-06 | 1 | 119070 | 0 | 0.01 | 0.334 | |
pi2r_human | 296 | 8.47x47 | H8 | R => H | missense | 1.688e-05 | 2 | 118468 | 0 | 0.0 | 0.996 | GP (contact) |
pi2r_human | 296 | 8.47x47 | H8 | R => C | missense | 8.45e-06 | 1 | 118350 | 0 | 0.0 | 0.998 | GP (contact) |
pi2r_human | 293 | 7.54x54 | TM7 | I => N | missense | 6.775e-05 | 8 | 118086 | 0 | 0.0 | 0.984 | |
pi2r_human | 287 | 7.48x48 | TM7 | L => V | missense | 8.504e-06 | 1 | 117598 | 0 | 0.18 | 0.014 | |
pi2r_human | 284 | 7.45x45 | TM7 | N => S | missense | 8.517e-06 | 1 | 117414 | 0 | 0.0 | 0.998 | |
pi2r_human | 282 | 7.43x42 | TM7 | A => T | missense | 2.559e-05 | 3 | 117212 | 0 | 0.0 | 0.948 | |
pi2r_human | 279 | 7.40x39 | TM7 | R => H | missense | 2.564e-05 | 3 | 116990 | 0 | 0.0 | 0.999 | |
pi2r_human | 279 | 7.40x39 | TM7 | R => C | missense | 2.567e-05 | 3 | 116878 | 0 | 0.0 | 1.0 | |
pi2r_human | 274 | 7.35x34 | TM7 | D => G | missense | 8.587e-06 | 1 | 116458 | 0 | 0.0 | 0.99 | |
pi2r_human | 274 | 7.35x34 | TM7 | D => H | missense | 0.000103 | 12 | 116456 | 0 | 0.0 | 0.967 | |
pi2r_human | 274 | 7.35x34 | TM7 | D => N | missense | 1.717e-05 | 2 | 116456 | 0 | 0.1 | 0.893 | |
pi2r_human | 267 | ECL3 | D => N | missense | 0.0004071 | 47 | 115464 | 0 | 0.06 | 0.105 | ||
pi2r_human | 265 | 6.61x61 | TM6 | A => T | missense | 3.474e-05 | 4 | 115146 | 0 | 0.17 | 0.009 | |
pi2r_human | 263 | 6.59x59 | TM6 | A => S | missense | 8.717e-06 | 1 | 114712 | 0 | 0.04 | 0.348 | |
pi2r_human | 258 | 6.54x54 | TM6 | R => H | missense | 1.777e-05 | 2 | 112546 | 0 | 0.03 | 0.082 | |
pi2r_human | 258 | 6.54x54 | TM6 | R => L | missense | 8.885e-06 | 1 | 112546 | 0 | 0.01 | 0.644 | |
pi2r_human | 258 | 6.54x54 | TM6 | R => C | missense | 7.128e-05 | 8 | 112226 | 0 | 0.04 | 0.082 | |
pi2r_human | 258 | 6.54x54 | TM6 | R => S | missense | 8.911e-06 | 1 | 112226 | 0 | 0.01 | 0.342 | |
pi2r_human | 256 | 6.52x52 | TM6 | T => M | missense | 0.0001733 | 4 | 23084 | 0 | 0.0 | 1.0 | |
pi2r_human | 249 | 6.45x45 | TM6 | A => G | missense | 3.606e-05 | 1 | 27732 | 0 | 0.0 | 0.39 | |
pi2r_human | 246 | 6.42x42 | TM6 | V => A | missense | 3.485e-05 | 1 | 28696 | 0 | 0.03 | 0.009 | |
pi2r_human | 231 | 6.27x27 | TM6 | G => R | missense | 0.003724 | 85 | 22822 | 1 | 0.39 | 0.133 | |
pi2r_human | 228 | 6.24x24 | TM6 | P => L | missense | 4.824e-05 | 1 | 20728 | 0 | 0.12 | 0.009 | |
pi2r_human | 227 | 6.23x23 | TM6 | R => W | missense | 4.957e-05 | 1 | 20174 | 0 | 0.01 | 0.8 | |
pi2r_human | 226 | 6.22x22 | TM6 | P => T | missense | 0.002776 | 55 | 19816 | 1 | 0.12 | 0.142 | |
pi2r_human | 215 | 5.68x68 | TM5 | R => C | missense | 0.0001739 | 3 | 17248 | 0 | 0.0 | 0.996 | GP (contact) |
pi2r_human | 212 | 5.65x65 | TM5 | R => H | missense | 0.001793 | 30 | 16736 | 1 | 0.05 | 0.082 | GP (contact) |
pi2r_human | 212 | 5.65x65 | TM5 | R => C | missense | 0.00572 | 95 | 16608 | 1 | 0.0 | 0.932 | GP (contact) |
pi2r_human | 205 | 5.58x58 | TM5 | S => L | missense | 6.496e-05 | 1 | 15394 | 0 | 0.15 | 0.534 | SodiumPocket MicroSwitch |
pi2r_human | 204 | 5.57x57 | TM5 | G => S | missense | 0.0003903 | 6 | 15374 | 0 | 0.38 | 0.283 | |
pi2r_human | 194 | 5.47x47 | TM5 | L => M | missense | 0.0006912 | 10 | 14468 | 0 | 0.02 | 0.979 | SodiumPocket MicroSwitch |
pi2r_human | 189 | 5.42x42 | TM5 | A => G | missense | 0.0002844 | 4 | 14066 | 0 | 0.0 | 0.951 | |
pi2r_human | 185 | 5.38x38 | TM5 | S => L | missense | 0.0002078 | 3 | 14438 | 0 | 0.29 | 0.132 | |
pi2r_human | 183 | 5.36x36 | TM5 | A => P | missense | 7.238e-05 | 1 | 13816 | 0 | 0.03 | 0.997 | |
pi2r_human | 181 | ECL2 | G => V | missense | 6.265e-05 | 1 | 15962 | 0 | 0.2 | 0.014 | ||
pi2r_human | 179 | ECL2 | P => S | missense | 5.749e-05 | 1 | 17394 | 0 | 0.43 | 0.026 | ||
pi2r_human | 178 | ECL2 | Q => E | missense | 5.375e-05 | 1 | 18604 | 0 | 1.0 | 0.002 | ||
pi2r_human | 177 | ECL2 | A => G | missense | 0.0001039 | 2 | 19252 | 0 | 0.3 | 0.006 | ||
pi2r_human | 175 | ECL2 | R => H | missense | 0.000141 | 3 | 21276 | 0 | 0.07 | 0.884 | ||
pi2r_human | 175 | ECL2 | R => C | missense | 8.928e-05 | 2 | 22402 | 0 | 0.01 | 0.964 | ||
pi2r_human | 173 | ECL2 | R => C | missense | 3.873e-05 | 1 | 25820 | 0 | 0.01 | 0.959 | ||
pi2r_human | 170 | 45.50x50 | ECL2 | C => Y | missense | 3.391e-05 | 1 | 29490 | 0 | 0.0 | 1.0 | |
pi2r_human | 167 | ECL2 | G => S | missense | 5.626e-05 | 2 | 35552 | 0 | 0.0 | 1.0 | ||
pi2r_human | 162 | ECL2 | Q => R | missense | 2.115e-05 | 1 | 47282 | 0 | 0.55 | 0.007 | ||
pi2r_human | 157 | 4.63x63 | TM4 | G => C | missense | 1.658e-05 | 1 | 60310 | 0 | 0.0 | 0.999 | |
pi2r_human | 152 | 4.58x58 | TM4 | A => V | missense | 0.0001134 | 8 | 70530 | 0 | 0.18 | 0.312 | |
pi2r_human | 152 | 4.58x58 | TM4 | A => S | missense | 1.401e-05 | 1 | 71360 | 0 | 0.47 | 0.043 | |
pi2r_human | 152 | 4.58x58 | TM4 | A => T | missense | 1.401e-05 | 1 | 71360 | 0 | 0.2 | 0.531 | |
pi2r_human | 148 | 4.54x54 | TM4 | V => I | missense | 1.267e-05 | 1 | 78934 | 0 | 0.35 | 0.004 | |
pi2r_human | 145 | 4.51x51 | TM4 | A => T | missense | 3.581e-05 | 3 | 83766 | 0 | 0.31 | 0.041 | |
pi2r_human | 143 | 4.49x49 | TM4 | I => T | missense | 1.171e-05 | 1 | 85422 | 0 | 0.01 | 0.772 | |
pi2r_human | 143 | 4.49x49 | TM4 | I => V | missense | 1.168e-05 | 1 | 85634 | 0 | 0.22 | 0.042 | |
pi2r_human | 137 | 4.43x43 | TM4 | R => H | missense | 3.483e-05 | 3 | 86122 | 0 | 0.29 | 0.142 | |
pi2r_human | 137 | 4.43x43 | TM4 | R => C | missense | 2.325e-05 | 2 | 86024 | 0 | 0.07 | 0.935 | |
pi2r_human | 136 | 4.42x42 | TM4 | A => S | missense | 3.484e-05 | 3 | 86104 | 0 | 0.01 | 0.989 | |
pi2r_human | 135 | 4.41x41 | TM4 | C => G | missense | 1.153e-05 | 1 | 86718 | 0 | 0.54 | 0.19 | |
pi2r_human | 134 | 4.40x40 | TM4 | R => H | missense | 0.0002196 | 19 | 86536 | 0 | 0.03 | 0.12 | |
pi2r_human | 134 | 4.40x40 | TM4 | R => G | missense | 1.148e-05 | 1 | 87082 | 0 | 0.04 | 0.193 | |
pi2r_human | 134 | 4.40x40 | TM4 | R => S | missense | 1.148e-05 | 1 | 87082 | 0 | 0.1 | 0.239 | |
pi2r_human | 128 | 34.54x54 | ICL2 | A => V | missense | 8.98e-05 | 8 | 89084 | 0 | 0.05 | 0.331 | GP (contact) |
pi2r_human | 128 | 34.54x54 | ICL2 | A => T | missense | 3.359e-05 | 3 | 89320 | 0 | 0.14 | 0.014 | GP (contact) |
pi2r_human | 124 | 34.50x50 | ICL2 | P => R | missense | 1.121e-05 | 1 | 89242 | 0 | 0.0 | 1.0 | GP (contact) |
pi2r_human | 124 | 34.50x50 | ICL2 | P => S | missense | 1.119e-05 | 1 | 89364 | 0 | 0.0 | 1.0 | GP (contact) |
pi2r_human | 123 | 3.56x56 | TM3 | H => Q | missense | 1.12e-05 | 1 | 89312 | 0 | 0.04 | 0.943 | GP (contact) |
pi2r_human | 117 | 3.50x50 | TM3 | R => C | missense | 2.273e-05 | 2 | 88000 | 0 | 0.0 | 0.999 | SodiumPocket MicroSwitch GP (contact) |
pi2r_human | 116 | 3.49x49 | TM3 | E => K | missense | 1.14e-05 | 1 | 87694 | 0 | 0.0 | 0.999 | SodiumPocket MicroSwitch |
pi2r_human | 115 | 3.48x48 | TM3 | V => L | missense | 2.301e-05 | 2 | 86918 | 0 | 0.79 | 0.473 | |
pi2r_human | 115 | 3.48x48 | TM3 | V => M | missense | 1.151e-05 | 1 | 86918 | 0 | 0.01 | 0.985 | |
pi2r_human | 114 | 3.47x47 | TM3 | A => G | missense | 1.155e-05 | 1 | 86588 | 0 | 0.0 | 0.999 | |
pi2r_human | 113 | 3.46x46 | TM3 | M => T | missense | 3.497e-05 | 3 | 85798 | 0 | 0.06 | 0.995 | |
pi2r_human | 112 | 3.45x45 | TM3 | A => V | missense | 2.372e-05 | 2 | 84332 | 0 | 0.0 | 0.983 | |
pi2r_human | 109 | 3.42x42 | TM3 | I => F | missense | 1.279e-05 | 1 | 78178 | 0 | 0.01 | 0.836 | |
pi2r_human | 107 | 3.40x40 | TM3 | M => T | missense | 5.381e-05 | 4 | 74342 | 0 | 0.37 | 0.007 | SodiumPocket MicroSwitch |
pi2r_human | 107 | 3.40x40 | TM3 | M => V | missense | 2.722e-05 | 2 | 73474 | 0 | 0.01 | 0.217 | SodiumPocket MicroSwitch |
pi2r_human | 105 | 3.38x38 | TM3 | A => V | missense | 0.0003085 | 21 | 68076 | 0 | 0.02 | 0.999 | |
pi2r_human | 104 | 3.37x37 | TM3 | L => R | missense | 1.532e-05 | 1 | 65256 | 0 | 0.0 | 0.997 | |
pi2r_human | 100 | 3.33x33 | TM3 | T => I | missense | 1.671e-05 | 1 | 59858 | 0 | 0.02 | 0.877 | |
pi2r_human | 97 | 3.30x30 | TM3 | F => L | missense | 1.913e-05 | 1 | 52280 | 0 | 0.02 | 0.997 | |
pi2r_human | 97 | 3.30x30 | TM3 | F => V | missense | 1.924e-05 | 1 | 51964 | 0 | 0.08 | 0.999 | |
pi2r_human | 90 | 3.23x23 | TM3 | A => P | missense | 0.0001625 | 6 | 36930 | 0 | 0.14 | 0.026 | |
pi2r_human | 90 | 3.23x23 | TM3 | A => T | missense | 5.416e-05 | 2 | 36930 | 0 | 0.35 | 0.028 | |
pi2r_human | 83 | ECL1 | G => S | missense | 4.269e-05 | 1 | 23422 | 0 | 0.08 | 0.665 | ||
pi2r_human | 77 | 2.67x67 | TM2 | R => H | missense | 0.0007731 | 13 | 16816 | 0 | 0.12 | 0.198 | |
pi2r_human | 77 | 2.67x67 | TM2 | R => C | missense | 0.000355 | 6 | 16902 | 0 | 0.04 | 0.973 | |
pi2r_human | 76 | 2.66x66 | TM2 | A => V | missense | 6.212e-05 | 1 | 16098 | 0 | 0.0 | 0.988 | |
pi2r_human | 72 | 2.62x62 | TM2 | F => L | missense | 0.0001525 | 2 | 13114 | 1 | 0.93 | 0.997 | |
pi2r_human | 71 | 2.61x61 | TM2 | V => M | missense | 8.135e-05 | 1 | 12292 | 0 | 0.0 | 1.0 | |
pi2r_human | 49 | 2.39x39 | TM2 | F => L | missense | 0.000242 | 3 | 12396 | 0 | 0.0 | 1.0 | |
pi2r_human | 42 | ICL1 | R => Q | missense | 0.0004148 | 5 | 12054 | 0 | 0.1 | 0.718 | ||
pi2r_human | 32 | 1.51x51 | TM1 | G => R | missense | 8.61e-05 | 1 | 11614 | 0 | 0.02 | 0.99 | |
pi2r_human | 30 | 1.49x49 | TM1 | G => S | missense | 8.803e-05 | 1 | 11360 | 0 | 0.0 | 1.0 | |
pi2r_human | 25 | 1.44x44 | TM1 | V => M | missense | 0.007009 | 65 | 9274 | 4 | 0.06 | 0.624 | |
pi2r_human | 21 | 1.40x40 | TM1 | T => N | missense | 0.0001232 | 1 | 8114 | 0 | 0.02 | 0.691 | |
pi2r_human | 17 | 1.36x36 | TM1 | P => L | missense | 0.0001681 | 1 | 5950 | 0 | 0.02 | 0.799 | |
pi2r_human | 15 | N-term | V => A | missense | 0.01513 | 76 | 5024 | 3 | 0.7 | 0.023 | ||
pi2r_human | 15 | N-term | V => L | missense | 0.0002103 | 1 | 4754 | 0 | 0.29 | 0.295 | ||
pi2r_human | 13 | N-term | G => D | missense | 0.0002275 | 1 | 4396 | 0 | 0.72 | 0.006 | ||
pi2r_human | 11 | N-term | V => L | missense | 0.0005005 | 2 | 3996 | 0 | 0.62 | 0.195 | ||
pi2r_human | 2 | N-term | A => T | missense | 0.001759 | 5 | 2842 | 0 | 0.07 | 0.435 |
Residue
- deleterious missense variants are shown in red
- tolerated missense variants are shown in green
- loss of function mutations ('stop gained' or 'frameshift' in the coding region) are shown in blue