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 |
v1ar_human | 401 | C-term | W => Ter | stop gained | 8.237e-06 | 1 | 121406 | 0 | None | None | ||
v1ar_human | 392 | C-term | R => Ter | stop gained | 2.471e-05 | 3 | 121410 | 0 | None | None | ||
v1ar_human | 315 | 6.59x59 | TM6 | V => GlyfsTer24 | frameshift | 8.282e-06 | 1 | 120744 | 0 | None | None | |
v1ar_human | 316 | 6.60x60 | TM6 | W => Ter | stop gained | 8.28e-06 | 1 | 120778 | 0 | None | None | |
v1ar_human | 303 | 6.47x47 | TM6 | C => AlafsTer37 | frameshift | 8.256e-06 | 1 | 121130 | 0 | None | None | |
v1ar_human | 266 | ICL3 | F => SerfsTer14 | frameshift | 8.253e-06 | 1 | 121164 | 0 | None | None | ||
v1ar_human | 244 | 5.66x66 | TM5 | W => CysfsTer36 | frameshift | 8.287e-06 | 1 | 120668 | 0 | None | None | GP (contact) |
v1ar_human | 235 | 5.57x57 | TM5 | C => Ter | stop gained | 8.298e-06 | 1 | 120504 | 0 | None | None | |
v1ar_human | 184 | 4.59x60 | TM4 | P => ArgfsTer8 | frameshift | 8.356e-06 | 1 | 119668 | 0 | None | None | |
v1ar_human | 161 | 34.55x55 | ICL2 | Q => CysfsTer11 | frameshift | 8.384e-06 | 1 | 119278 | 0 | None | None | GP (contact) |
v1ar_human | 131 | 3.32x32 | TM3 | Q => Ter | stop gained | 2.565e-05 | 3 | 116962 | 0 | None | None | |
v1ar_human | 91 | 2.44x44 | TM2 | R => Ter | stop gained | 8.569e-06 | 1 | 116702 | 0 | None | None | |
v1ar_human | 29 | N-term | S => AlafsTer32 | frameshift | 9.01e-06 | 1 | 110990 | 0 | None | None | ||
v1ar_human | 418 | C-term | T => I | missense | 2.475e-05 | 3 | 121200 | 0 | nan | 0.976 | ||
v1ar_human | 413 | C-term | F => L | missense | 3.296e-05 | 4 | 121360 | 0 | nan | 0.686 | ||
v1ar_human | 408 | C-term | S => F | missense | 8.237e-06 | 1 | 121398 | 0 | 0.0 | 0.985 | PTM (Phosphorylation) | |
v1ar_human | 405 | C-term | P => R | missense | 8.237e-06 | 1 | 121404 | 0 | 0.06 | 0.905 | ||
v1ar_human | 398 | C-term | T => R | missense | 0.0008566 | 104 | 121410 | 0 | 0.19 | 0.831 | ||
v1ar_human | 398 | C-term | T => M | missense | 3.295e-05 | 4 | 121410 | 0 | 0.12 | 0.131 | ||
v1ar_human | 392 | C-term | R => G | missense | 1.647e-05 | 2 | 121410 | 0 | 0.09 | 0.969 | ||
v1ar_human | 391 | C-term | N => S | missense | 8.237e-06 | 1 | 121410 | 0 | 0.56 | 0.012 | ||
v1ar_human | 383 | C-term | R => G | missense | 1.647e-05 | 2 | 121410 | 0 | 0.02 | 0.983 | ||
v1ar_human | 377 | C-term | D => V | missense | 2.471e-05 | 3 | 121410 | 0 | 0.18 | 0.915 | ||
v1ar_human | 373 | C-term | F => I | missense | 0.003138 | 381 | 121410 | 7 | 0.2 | 0.033 | ||
v1ar_human | 371 | C-term | E => G | missense | 8.237e-06 | 1 | 121408 | 0 | 0.39 | 0.002 | ||
v1ar_human | 369 | C-term | M => I | missense | 8.237e-06 | 1 | 121408 | 0 | 0.4 | 0.001 | ||
v1ar_human | 369 | C-term | M => V | missense | 8.237e-06 | 1 | 121408 | 0 | 0.51 | 0.001 | ||
v1ar_human | 363 | 8.58x58 | H8 | F => L | missense | 8.237e-06 | 1 | 121406 | 0 | 0.64 | 0.011 | |
v1ar_human | 362 | 8.57x57 | H8 | S => R | missense | 8.237e-06 | 1 | 121406 | 0 | 0.42 | 0.751 | |
v1ar_human | 362 | 8.57x57 | H8 | S => C | missense | 8.237e-06 | 1 | 121406 | 0 | 0.26 | 0.018 | |
v1ar_human | 357 | 8.52x52 | H8 | Q => H | missense | 8.237e-06 | 1 | 121404 | 0 | 0.48 | 0.384 | |
v1ar_human | 356 | 8.51x51 | H8 | L => F | missense | 8.237e-06 | 1 | 121408 | 0 | 0.41 | 0.654 | GP (contact) |
v1ar_human | 353 | 8.48x48 | H8 | G => A | missense | 1.647e-05 | 2 | 121408 | 0 | 0.01 | 0.994 | GP (contact) |
v1ar_human | 350 | 7.55x55 | TM7 | F => V | missense | 8.237e-06 | 1 | 121408 | 0 | 0.11 | 0.131 | GP (contact) |
v1ar_human | 350 | 7.55x55 | TM7 | F => L | missense | 8.237e-06 | 1 | 121408 | 0 | 0.37 | 0.045 | GP (contact) |
v1ar_human | 349 | 7.54x54 | TM7 | M => V | missense | 8.237e-06 | 1 | 121410 | 0 | 0.0 | 0.944 | |
v1ar_human | 346 | 7.51x51 | TM7 | W => C | missense | 3.295e-05 | 4 | 121410 | 0 | 0.01 | 1.0 | |
v1ar_human | 337 | 7.42x41 | TM7 | G => C | missense | 8.237e-06 | 1 | 121406 | 0 | 0.0 | 0.759 | |
v1ar_human | 334 | 7.39x38 | TM7 | A => T | missense | 1.647e-05 | 2 | 121402 | 0 | 0.07 | 0.955 | |
v1ar_human | 330 | 7.35x34 | TM7 | I => V | missense | 1.648e-05 | 2 | 121362 | 0 | 0.45 | 0.002 | |
v1ar_human | 327 | 7.32x31 | TM7 | N => K | missense | 3.297e-05 | 4 | 121332 | 0 | 0.01 | 0.786 | |
v1ar_human | 325 | 7.30x29 | TM7 | S => L | missense | 1.65e-05 | 2 | 121204 | 0 | 0.01 | 0.959 | |
v1ar_human | 321 | ECL3 | V => F | missense | 8.326e-06 | 1 | 120106 | 0 | 0.01 | 0.099 | ||
v1ar_human | 311 | 6.55x55 | TM6 | Q => H | missense | 8.266e-06 | 1 | 120984 | 0 | 0.01 | 1.0 | |
v1ar_human | 308 | 6.52x52 | TM6 | F => L | missense | 0.009781 | 1184 | 121050 | 9 | 0.02 | 0.858 | |
v1ar_human | 294 | 6.38x38 | TM6 | F => S | missense | 8.252e-06 | 1 | 121178 | 0 | 0.01 | 0.517 | |
v1ar_human | 288 | 6.32x32 | TM6 | R => L | missense | 8.251e-06 | 1 | 121198 | 0 | 0.0 | 0.997 | GP (contact) |
v1ar_human | 286 | 6.30x30 | TM6 | K => R | missense | 8.25e-06 | 1 | 121206 | 0 | 0.01 | 0.86 | SodiumPocket MicroSwitch |
v1ar_human | 285 | 6.29x29 | TM6 | A => V | missense | 4.125e-05 | 5 | 121214 | 0 | 0.0 | 1.0 | GP (contact) |
v1ar_human | 284 | 6.28x28 | TM6 | R => Q | missense | 8.25e-06 | 1 | 121208 | 0 | 0.02 | 0.923 | GP (contact) |
v1ar_human | 284 | 6.28x28 | TM6 | R => W | missense | 1.65e-05 | 2 | 121208 | 0 | 0.0 | 1.0 | GP (contact) |
v1ar_human | 282 | 6.26x26 | TM6 | I => T | missense | 2.475e-05 | 3 | 121210 | 0 | 0.0 | 0.844 | GP (contact) |
v1ar_human | 280 | 6.24x24 | TM6 | K => N | missense | 8.25e-06 | 1 | 121208 | 0 | 0.05 | 0.444 | |
v1ar_human | 275 | ICL3 | C => W | missense | 8.251e-06 | 1 | 121204 | 0 | 0.19 | 0.033 | ||
v1ar_human | 274 | ICL3 | P => S | missense | 8.251e-06 | 1 | 121198 | 0 | 1.0 | 0.036 | ||
v1ar_human | 273 | ICL3 | A => G | missense | 1.65e-05 | 2 | 121202 | 0 | 0.3 | 0.149 | ||
v1ar_human | 270 | ICL3 | F => L | missense | 0.0004786 | 58 | 121196 | 0 | 1.0 | 0.001 | ||
v1ar_human | 269 | ICL3 | G => V | missense | 8.252e-06 | 1 | 121180 | 0 | 0.0 | 0.924 | ||
v1ar_human | 263 | ICL3 | G => D | missense | 1.651e-05 | 2 | 121124 | 0 | 0.07 | 0.371 | ||
v1ar_human | 263 | ICL3 | G => V | missense | 1.651e-05 | 2 | 121124 | 0 | 0.05 | 0.03 | ||
v1ar_human | 259 | ICL3 | A => T | missense | 8.261e-06 | 1 | 121056 | 0 | 0.25 | 0.008 | ||
v1ar_human | 252 | 5.74x74 | TM5 | A => V | missense | 0.0002233 | 27 | 120922 | 1 | 0.2 | 0.009 | GP (contact) |
v1ar_human | 252 | 5.74x74 | TM5 | A => T | missense | 8.271e-06 | 1 | 120906 | 0 | 0.31 | 0.008 | GP (contact) |
v1ar_human | 246 | 5.68x68 | TM5 | N => K | missense | 8.283e-06 | 1 | 120736 | 0 | 0.0 | 0.539 | GP (contact) |
v1ar_human | 235 | 5.57x57 | TM5 | C => S | missense | 1.66e-05 | 2 | 120494 | 0 | 0.0 | 0.733 | |
v1ar_human | 232 | 5.54x54 | TM5 | L => V | missense | 1.661e-05 | 2 | 120392 | 0 | 0.0 | 0.996 | |
v1ar_human | 223 | 5.45x46 | TM5 | G => C | missense | 8.326e-06 | 1 | 120108 | 0 | 0.08 | 0.547 | |
v1ar_human | 219 | 5.41x42 | TM5 | W => G | missense | 8.334e-06 | 1 | 119994 | 0 | 0.0 | 0.998 | |
v1ar_human | 214 | 5.36x37 | TM5 | R => G | missense | 5.009e-05 | 6 | 119786 | 0 | 0.0 | 0.898 | |
v1ar_human | 211 | 5.33x34 | TM5 | W => C | missense | 8.352e-06 | 1 | 119738 | 0 | 0.0 | 0.995 | |
v1ar_human | 209 | ECL2 | Q => L | missense | 8.354e-06 | 1 | 119702 | 0 | 0.62 | 0.013 | ||
v1ar_human | 208 | ECL2 | I => T | missense | 2.506e-05 | 3 | 119704 | 0 | 0.09 | 0.11 | ||
v1ar_human | 207 | ECL2 | F => V | missense | 8.357e-06 | 1 | 119664 | 0 | 0.0 | 0.994 | ||
v1ar_human | 206 | ECL2 | T => I | missense | 8.359e-06 | 1 | 119638 | 0 | 0.03 | 0.515 | ||
v1ar_human | 201 | ECL2 | R => C | missense | 8.363e-06 | 1 | 119576 | 0 | 0.01 | 0.001 | ||
v1ar_human | 199 | ECL2 | K => R | missense | 0.0003428 | 41 | 119604 | 1 | 0.03 | 0.014 | ||
v1ar_human | 196 | ECL2 | N => D | missense | 8.358e-06 | 1 | 119650 | 0 | 0.35 | 0.034 | ||
v1ar_human | 193 | ECL2 | E => K | missense | 2.507e-05 | 3 | 119652 | 0 | 0.02 | 0.746 | ||
v1ar_human | 191 | ECL2 | M => R | missense | 8.355e-06 | 1 | 119688 | 0 | 0.01 | 0.024 | ||
v1ar_human | 183 | 4.58x59 | TM4 | T => A | missense | 8.356e-06 | 1 | 119676 | 0 | 0.49 | 0.062 | |
v1ar_human | 168 | 4.43x43 | TM4 | R => H | missense | 8.39e-06 | 1 | 119188 | 0 | 0.32 | 0.006 | |
v1ar_human | 168 | 4.43x43 | TM4 | R => S | missense | 1.678e-05 | 2 | 119208 | 0 | 0.2 | 0.526 | |
v1ar_human | 166 | 4.41x41 | TM4 | R => L | missense | 8.387e-06 | 1 | 119234 | 0 | 0.01 | 0.886 | |
v1ar_human | 166 | 4.41x41 | TM4 | R => S | missense | 8.386e-06 | 1 | 119248 | 0 | 0.42 | 0.758 | |
v1ar_human | 156 | 34.50x50 | ICL2 | P => Q | missense | 8.384e-06 | 1 | 119276 | 0 | 0.0 | 1.0 | GP (contact) |
v1ar_human | 155 | 3.56x56 | TM3 | H => Y | missense | 8.386e-06 | 1 | 119244 | 0 | 0.01 | 0.775 | GP (contact) |
v1ar_human | 153 | 3.54x54 | TM3 | V => M | missense | 8.386e-06 | 1 | 119244 | 0 | 0.0 | 0.909 | GP (contact) |
v1ar_human | 145 | 3.46x46 | TM3 | M => T | missense | 0.0001176 | 14 | 119096 | 0 | 0.0 | 0.587 | |
v1ar_human | 143 | 3.44x44 | TM3 | V => I | missense | 1.68e-05 | 2 | 119058 | 0 | 0.29 | 0.393 | |
v1ar_human | 140 | 3.41x41 | TM3 | Y => S | missense | 8.41e-06 | 1 | 118900 | 0 | 0.0 | 0.998 | |
v1ar_human | 139 | 3.40x40 | TM3 | A => P | missense | 8.419e-06 | 1 | 118782 | 0 | 0.02 | 0.049 | SodiumPocket MicroSwitch |
v1ar_human | 136 | 3.37x37 | TM3 | F => L | missense | 8.453e-06 | 1 | 118296 | 0 | 0.0 | 0.986 | |
v1ar_human | 136 | 3.37x37 | TM3 | F => C | missense | 8.497e-06 | 1 | 117690 | 0 | 0.0 | 0.999 | |
v1ar_human | 135 | 3.36x36 | TM3 | M => V | missense | 2.55e-05 | 3 | 117634 | 0 | 0.0 | 0.968 | |
v1ar_human | 134 | 3.35x35 | TM3 | G => S | missense | 2.559e-05 | 3 | 117230 | 0 | 0.5 | 0.221 | |
v1ar_human | 129 | 3.30x30 | TM3 | H => Q | missense | 2.567e-05 | 3 | 116866 | 0 | 0.0 | 0.968 | |
v1ar_human | 129 | 3.30x30 | TM3 | H => Y | missense | 8.574e-06 | 1 | 116636 | 0 | 1.0 | 0.02 | |
v1ar_human | 123 | 3.24x24 | TM3 | L => V | missense | 8.629e-06 | 1 | 115884 | 0 | 0.03 | 0.836 | |
v1ar_human | 121 | 3.22x22 | TM3 | D => E | missense | 8.61e-06 | 1 | 116144 | 0 | 0.0 | 0.927 | |
v1ar_human | 115 | 2.68x67 | TM2 | Y => C | missense | 6.892e-05 | 8 | 116074 | 0 | 0.0 | 0.928 | |
v1ar_human | 112 | 2.65x64 | TM2 | D => H | missense | 8.622e-06 | 1 | 115988 | 0 | 0.0 | 0.991 | |
v1ar_human | 108 | 2.61x60 | TM2 | Q => H | missense | 8.622e-06 | 1 | 115986 | 0 | 0.0 | 1.0 | |
v1ar_human | 107 | 2.60x59 | TM2 | P => L | missense | 8.651e-06 | 1 | 115600 | 0 | 0.0 | 0.999 | |
v1ar_human | 103 | 2.56x551 | TM2 | F => S | missense | 8.626e-06 | 1 | 115928 | 0 | 0.0 | 0.991 | |
v1ar_human | 93 | 2.46x46 | TM2 | L => F | missense | 8.577e-06 | 1 | 116586 | 0 | 0.0 | 1.0 | |
v1ar_human | 88 | 2.41x41 | TM2 | L => V | missense | 8.558e-06 | 1 | 116850 | 0 | 0.01 | 0.596 | |
v1ar_human | 84 | 2.37x37 | TM2 | S => F | missense | 8.634e-06 | 1 | 115822 | 0 | 0.0 | 0.996 | |
v1ar_human | 83 | 12.51x51 | ICL1 | T => M | missense | 3.465e-05 | 4 | 115454 | 0 | 0.22 | 0.028 | |
v1ar_human | 81 | 12.49x49 | ICL1 | R => H | missense | 3.479e-05 | 4 | 114972 | 0 | 0.41 | 0.142 | |
v1ar_human | 81 | 12.49x49 | ICL1 | R => G | missense | 8.714e-05 | 10 | 114752 | 0 | 0.0 | 0.869 | |
v1ar_human | 78 | 1.59x59 | TM1 | R => W | missense | 8.682e-06 | 1 | 115176 | 0 | 0.02 | 0.133 | |
v1ar_human | 77 | 1.58x58 | TM1 | H => Y | missense | 0.0005285 | 61 | 115430 | 0 | 0.99 | 0.004 | |
v1ar_human | 75 | 1.56x56 | TM1 | A => V | missense | 8.646e-06 | 1 | 115656 | 0 | 0.01 | 0.629 | |
v1ar_human | 75 | 1.56x56 | TM1 | A => P | missense | 8.651e-06 | 1 | 115594 | 0 | 0.0 | 0.992 | |
v1ar_human | 70 | 1.51x51 | TM1 | S => N | missense | 2.588e-05 | 3 | 115940 | 0 | 0.08 | 0.392 | |
v1ar_human | 68 | 1.49x49 | TM1 | G => R | missense | 8.636e-06 | 1 | 115796 | 0 | 0.0 | 0.999 | |
v1ar_human | 68 | 1.49x49 | TM1 | G => S | missense | 1.727e-05 | 2 | 115796 | 0 | 0.02 | 0.979 | |
v1ar_human | 66 | 1.47x47 | TM1 | V => M | missense | 5.192e-05 | 6 | 115552 | 0 | 0.04 | 0.158 | |
v1ar_human | 63 | 1.44x44 | TM1 | A => T | missense | 0.000199 | 23 | 115570 | 0 | 0.01 | 0.0 | |
v1ar_human | 61 | 1.42x42 | TM1 | T => A | missense | 0.0001989 | 23 | 115632 | 0 | 0.14 | 0.006 | |
v1ar_human | 59 | 1.40x40 | TM1 | A => T | missense | 8.63e-06 | 1 | 115880 | 0 | 0.03 | 0.21 | |
v1ar_human | 57 | 1.38x38 | TM1 | V => L | missense | 8.635e-06 | 1 | 115814 | 0 | 0.03 | 0.372 | |
v1ar_human | 55 | 1.36x36 | TM1 | I => F | missense | 2.592e-05 | 3 | 115756 | 0 | 0.0 | 0.933 | |
v1ar_human | 51 | 1.32x32 | TM1 | A => D | missense | 8.653e-06 | 1 | 115568 | 0 | 0.0 | 0.995 | |
v1ar_human | 48 | 1.29x29 | TM1 | E => D | missense | 8.668e-06 | 1 | 115366 | 0 | 0.0 | 0.882 | |
v1ar_human | 48 | 1.29x29 | TM1 | E => Q | missense | 0.0002603 | 30 | 115230 | 0 | 0.01 | 0.933 | |
v1ar_human | 47 | 1.28x28 | TM1 | N => D | missense | 8.681e-06 | 1 | 115198 | 0 | 0.64 | 0.009 | |
v1ar_human | 45 | N-term | V => L | missense | 8.708e-06 | 1 | 114832 | 0 | 0.32 | 0.001 | ||
v1ar_human | 44 | N-term | D => E | missense | 1.744e-05 | 2 | 114704 | 0 | 0.28 | 0.074 | ||
v1ar_human | 43 | N-term | R => K | missense | 1.746e-05 | 2 | 114542 | 0 | 0.93 | 0.001 | ||
v1ar_human | 43 | N-term | R => T | missense | 8.73e-06 | 1 | 114542 | 0 | 0.57 | 0.002 | ||
v1ar_human | 42 | N-term | P => Q | missense | 8.739e-06 | 1 | 114434 | 0 | 0.67 | 0.004 | ||
v1ar_human | 40 | N-term | G => S | missense | 8.782e-06 | 1 | 113868 | 0 | 0.58 | 0.001 | ||
v1ar_human | 40 | N-term | G => R | missense | 1.756e-05 | 2 | 113868 | 0 | 0.18 | 0.019 | ||
v1ar_human | 35 | N-term | L => V | missense | 2.66e-05 | 3 | 112762 | 0 | 0.74 | 0.002 | ||
v1ar_human | 34 | N-term | A => T | missense | 0.0002223 | 25 | 112466 | 0 | 0.58 | 0.002 | ||
v1ar_human | 30 | N-term | R => W | missense | 1.8e-05 | 2 | 111136 | 0 | 0.06 | 0.002 | ||
v1ar_human | 26 | N-term | G => S | missense | 9.155e-06 | 1 | 109226 | 0 | 0.3 | 0.001 | ||
v1ar_human | 25 | N-term | A => T | missense | 0.0002395 | 26 | 108566 | 0 | 0.38 | 0.003 | ||
v1ar_human | 25 | N-term | A => S | missense | 1.842e-05 | 2 | 108566 | 0 | 0.5 | 0.001 | ||
v1ar_human | 24 | N-term | G => S | missense | 9.241e-06 | 1 | 108214 | 0 | 0.59 | 0.0 | ||
v1ar_human | 18 | N-term | W => R | missense | 1.903e-05 | 2 | 105110 | 0 | 0.09 | 0.001 | ||
v1ar_human | 18 | N-term | W => R | missense | 9.514e-06 | 1 | 105110 | 0 | 0.09 | 0.001 | ||
v1ar_human | 15 | N-term | S => Y | missense | 9.785e-06 | 1 | 102194 | 0 | 0.01 | 0.219 | ||
v1ar_human | 14 | N-term | N => S | missense | 9.833e-06 | 1 | 101698 | 0 | 0.02 | 0.015 | ||
v1ar_human | 10 | N-term | G => E | missense | 1.044e-05 | 1 | 95802 | 0 | nan | 0.002 | ||
v1ar_human | 10 | N-term | G => V | missense | 1.044e-05 | 1 | 95802 | 0 | nan | 0.002 | ||
v1ar_human | 8 | N-term | D => N | missense | 1.138e-05 | 1 | 87874 | 0 | nan | 0.001 | ||
v1ar_human | 8 | N-term | D => Y | missense | 1.138e-05 | 1 | 87874 | 0 | nan | 0.002 | ||
v1ar_human | 6 | N-term | G => S | missense | 0.01693 | 1432 | 84596 | 123 | nan | 0.003 | ||
v1ar_human | 5 | N-term | A => P | missense | 1.237e-05 | 1 | 80858 | 0 | nan | 0.0 | ||
v1ar_human | 3 | N-term | L => V | missense | 1.313e-05 | 1 | 76156 | 0 | nan | 0.0 |
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