O95239
SS
Gene name |
KIF4A (KIF4) |
Protein name |
Chromosome-associated kinesin KIF4A |
Names |
Chromokinesin-A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:24137 |
EC number |
|
Protein Class |
|
Descriptions
Kinesin-like protein KIF21A is microtubule-binding motor protein involved in neuronal axonal transport. Kif21a adopts an autoinhibited state through the direct interaction of its motor and 3rd coiled-coil stalk domain. Kif21a mutations activate the motor protein, increasing transport activity, which contradicts typical autoinhibition observed in other proteins where mutations usually result in loss of function.
Autoinhibitory domains (AIDs)
Target domain |
9-336 (Motor domain) |
Relief mechanism |
Others |
Assay |
|
Accessory elements
No accessory elements
References
- Cheng L et al. (2014) "Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling", Neuron, 82, 334-49
- Bianchi S et al. (2016) "Structural basis for misregulation of kinesin KIF21A autoinhibition by CFEOM1 disease mutations", Scientific reports, 6, 30668
- Asselin L et al. (2020) "Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity", Nature communications, 11, 2441
- van der Vaart B et al. (2013) "CFEOM1-associated kinesin KIF21A is a cortical microtubule growth inhibitor", Developmental cell, 27, 145-160
Autoinhibited structure
Activated structure
2 structures for O95239
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6OYL | X-ray | 315 A | B | 1192-1232 | PDB |
| AF-O95239-F1 | Predicted | AlphaFoldDB |
732 variants for O95239
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001257990 rs1569234334 RCV000779661 |
265 | R>L | Congenital cerebellar hypoplasia Corpus callosum, agenesis of [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
| VAR_089012 | 317 | D>H | TMDI; uncertain significance [UniProt] | Yes | UniProt |
|
RCV002245515 rs2147691521 |
339 | K>E | Intellectual disability, X-linked 100 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001330414 rs963879999 |
375 | G>R | Intellectual disability, X-linked 100 [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV000990858 rs1344933833 |
509 | D>N | Intellectual disability, X-linked 100 [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000626907 CA413474819 rs766819113 |
518 | R>P | Obesity [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1045363046 RCV000678379 RCV003320364 |
582 | L>H | Intellectual disability, X-linked 100 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2086218922 RCV001331759 |
705 | E>K | Intellectual disability, X-linked 100 [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs374370199 VAR_089013 |
771 | R>K | TMDI; uncertain significance [UniProt] | Yes |
ESP TOPMed UniProt |
|
RCV001331760 rs768717763 |
912 | I>V | Intellectual disability, X-linked 100 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
| rs1227034446 | 6 | K>R | No | gnomAD | |
| rs2147654014 | 7 | G>V | No | Ensembl | |
| rs1231453522 | 8 | I>N | No | TOPMed | |
| rs753750555 | 9 | P>S | No |
ExAC gnomAD |
|
| rs1208830485 | 10 | V>I | No |
TOPMed gnomAD |
|
| COSM266782 | 13 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2147654043 | 16 | C>S | No | Ensembl | |
| rs751793615 | 20 | V>A | No |
ExAC gnomAD |
|
| rs141326559 | 21 | P>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs2085754866 | 22 | K>R | No | TOPMed | |
| rs2085754866 | 22 | K>T | No | TOPMed | |
| rs2085754904 | 24 | I>M | No | TOPMed | |
| rs781398464 | 25 | S>R | No |
ExAC gnomAD |
|
| rs2085754964 | 30 | M>T | No | TOPMed | |
|
COSM5077761 COSM1570058 |
35 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs770169547 | 36 | P>R | No |
ExAC gnomAD |
|
| rs2085755089 | 37 | G>A | No | gnomAD | |
| rs1472947894 | 38 | E>D | No | gnomAD | |
| rs1160414218 | 39 | P>H | No |
TOPMed gnomAD |
|
| rs1160414218 | 39 | P>L | No |
TOPMed gnomAD |
|
| rs1358512009 | 40 | Q>R | No |
TOPMed gnomAD |
|
| rs2085756119 | 41 | V>M | No | TOPMed | |
| rs2085756190 | 42 | V>E | No | Ensembl | |
| rs2085756136 | 42 | V>M | No | Ensembl | |
| rs1184065225 | 44 | G>C | No | gnomAD | |
| rs2085756336 | 45 | T>A | No | Ensembl | |
| COSM1124423 | 47 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2085756503 | 49 | F>I | No | Ensembl | |
| rs2085756540 | 49 | F>S | No | Ensembl | |
| rs1375942132 | 50 | T>I | No | gnomAD | |
| TCGA novel | 51 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2085756630 | 56 | D>G | No | TOPMed | |
|
COSM6039345 COSM6039346 rs1483094367 |
59 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs2147654260 | 59 | T>I | No | Ensembl | |
| rs750677798 | 62 | E>D | No |
ExAC TOPMed gnomAD |
|
|
COSM3694700 COSM3694701 |
64 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1173335211 | 66 | N>S | No |
TOPMed gnomAD |
|
| rs780336746 | 67 | T>I | No |
ExAC TOPMed gnomAD |
|
|
COSM403989 rs2085756868 |
68 | A>S | lung [Cosmic] | No |
cosmic curated TOPMed |
| rs951822262 | 69 | V>I | No | TOPMed | |
| rs749785195 | 70 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1239053478 | 71 | P>A | No |
TOPMed gnomAD |
|
| rs779475610 | 71 | P>Q | No |
ExAC gnomAD |
|
| rs746459463 | 74 | K>E | No |
ExAC gnomAD |
|
| rs1328780124 | 74 | K>N | No | gnomAD | |
| TCGA novel | 75 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2147654313 | 75 | G>D | No | Ensembl | |
| TCGA novel | 75 | G>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2085785968 | 80 | Y>H | No | Ensembl | |
| rs2085786030 | 87 | Y>C | No | TOPMed | |
| TCGA novel | 89 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs780898289 | 100 | G>S | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 101 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs745501246 | 101 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs2085786213 | 102 | Y>N | No | gnomAD | |
| rs1342560911 | 103 | T>A | No | gnomAD | |
| rs1229366486 | 103 | T>S | No | gnomAD | |
| rs1342560911 | 103 | T>S | No | gnomAD | |
| rs1263584881 | 104 | A>E | No | gnomAD | |
| rs748988660 | 105 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1345634557 | 107 | E>Q | No | TOPMed | |
| rs2085786374 | 109 | E>K | No | TOPMed | |
| TCGA novel | 114 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM6187525 COSM6187526 |
123 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3845245 COSM3845244 |
125 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1248911890 | 128 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs761790359 | 129 | K>E | No |
ExAC gnomAD |
|
|
RCV000309302 rs772129850 CA10440982 |
129 | K>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1164328941 | 130 | S>G | No | TOPMed | |
| rs974175595 | 133 | E>A | No | TOPMed | |
| TCGA novel | 134 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1418001054 | 141 | L>V | No |
TOPMed gnomAD |
|
|
rs1216111472 COSM257244 |
147 | E>D | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| rs749846971 | 153 | C>R | No |
ExAC gnomAD |
|
| rs1487012048 | 154 | P>L | No |
TOPMed gnomAD |
|
|
rs1396879790 COSM231474 |
156 | R>C | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs779535123 | 156 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| TCGA novel | 163 | I>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1424763754 | 163 | I>V | No |
TOPMed gnomAD |
|
| TCGA novel | 164 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs964579140 | 166 | D>N | No | Ensembl | |
| rs199503973 | 169 | E>D | No |
1000Genomes ExAC gnomAD |
|
| rs1410430801 | 169 | E>K | No | gnomAD | |
| rs2085795196 | 170 | G>A | No | TOPMed | |
| rs1317689699 | 171 | I>V | No | gnomAD | |
| rs1004727284 | 173 | I>T | No | Ensembl | |
| rs765682595 | 175 | G>R | No |
ExAC gnomAD |
|
| rs1279554493 | 178 | E>K | No | TOPMed | |
| rs1213529536 | 179 | K>E | No | gnomAD | |
| rs2147660481 | 179 | K>N | No | Ensembl | |
|
COSM4110735 COSM4110734 rs1041149699 |
184 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| TCGA novel | 186 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM5208864 COSM457920 |
187 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1250206623 | 189 | S>C | No | gnomAD | |
|
COSM3914173 COSM3914172 |
189 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1483052898 | 192 | E>K | No |
TOPMed gnomAD |
|
| rs2085806115 | 193 | Q>L | No | TOPMed | |
| rs2085806138 | 195 | N>S | No | TOPMed | |
| rs1400463240 | 196 | N>S | No | Ensembl | |
| COSM1124424 | 203 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1124425 | 204 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2085806230 | 205 | M>V | No | Ensembl | |
| rs1291770757 | 208 | Q>R | No | TOPMed | |
| rs1350291971 | 211 | R>Q | No | TOPMed | |
| rs1420354441 | 218 | I>V | No |
TOPMed gnomAD |
|
|
TCGA novel rs2085806405 |
223 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs764648571 | 224 | K>Q | No |
ExAC TOPMed gnomAD |
|
| rs2085806441 | 224 | K>T | No | Ensembl | |
| rs1435076649 | 225 | K>N | No |
TOPMed gnomAD |
|
| rs1314569102 | 227 | D>Y | No | gnomAD | |
| rs1402729909 | 230 | S>G | No |
TOPMed gnomAD |
|
| rs150082427 | 231 | S>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs777529831 | 233 | R>C | No |
ExAC gnomAD |
|
| rs747005340 | 233 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1356259511 | 242 | A>T | No | gnomAD | |
| rs1293082640 | 253 | E>D | No | gnomAD | |
| rs2085807720 | 255 | D>N | No | Ensembl | |
| rs1035144622 | 258 | K>R | No |
TOPMed gnomAD |
|
| TCGA novel | 262 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 262 | N>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1164009052 | 275 | S>G | No | gnomAD | |
| TCGA novel | 276 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1463104712 | 281 | K>Q | No | gnomAD | |
| rs986736282 | 287 | P>S | No | gnomAD | |
| rs1469431085 | 290 | D>N | No | TOPMed | |
| rs764817782 | 292 | K>R | No |
ExAC TOPMed gnomAD |
|
|
COSM5208545 COSM457921 |
302 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2085924980 | 303 | G>S | No | Ensembl | |
| rs1320542230 | 304 | N>D | No | gnomAD | |
| rs1403676883 | 304 | N>S | No | gnomAD | |
| TCGA novel | 305 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1198341443 | 305 | S>N | No | Ensembl | |
| rs764770221 | 309 | M>L | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 311 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1237806459 | 316 | A>T | No |
TOPMed gnomAD |
|
| rs1447795705 | 319 | N>S | No | gnomAD | |
|
COSM1124426 rs1380147008 |
328 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| rs1349345550 | 330 | A>T | No | gnomAD | |
| rs2085925328 | 331 | D>A | No | TOPMed | |
| rs373191653 | 341 | I>V | No |
ESP TOPMed gnomAD |
|
| rs2085925382 | 342 | V>G | No | TOPMed | |
| rs909783162 | 343 | N>D | No |
TOPMed gnomAD |
|
| rs1209950549 | 345 | D>E | No | gnomAD | |
| rs745840122 | 346 | P>S | No |
ExAC gnomAD |
|
| COSM1124427 | 347 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1602751328 | 347 | Q>P | No | Ensembl | |
| rs756238206 | 348 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs780336464 | 348 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs1363235296 | 353 | H>R | No | gnomAD | |
| TCGA novel | 355 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1470573737 | 355 | K>T | No |
TOPMed gnomAD |
|
| rs1028007003 | 358 | V>I | No | Ensembl | |
| rs2085939854 | 362 | Q>R | No | TOPMed | |
| rs761637337 | 363 | V>I | No |
ExAC gnomAD |
|
| rs1569235241 | 368 | A>S | No | Ensembl | |
| rs767263154 | 368 | A>V | No |
ExAC gnomAD |
|
| rs1569235246 | 369 | H>R | No | Ensembl | |
| rs2085940072 | 377 | I>V | No | Ensembl | |
| rs756184991 | 378 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs202011451 | 379 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs762485082 | 382 | S>P | No |
ExAC gnomAD |
|
| rs1023260839 | 384 | N>S | No |
TOPMed gnomAD |
|
| rs1161989213 | 386 | Q>H | No |
TOPMed gnomAD |
|
| rs1391604597 | 388 | L>Q | No | gnomAD | |
| rs768091173 | 389 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs1326141803 | 391 | K>E | No | gnomAD | |
|
RCV000910534 rs371383515 |
392 | N>H | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs767413251 | 394 | S>F | No |
ExAC gnomAD |
|
| rs1326820879 | 394 | S>T | No | gnomAD | |
| rs760556502 | 396 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs1334183190 | 396 | V>L | No | gnomAD | |
| rs1462698245 | 398 | E>K | No | TOPMed | |
| COSM757725 | 402 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM221890 rs2085973767 |
404 | R>C | Variant assessed as Somatic; MODERATE impact. skin endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
|
COSM5004693 COSM5004694 |
404 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1204902454 | 405 | G>A | No | gnomAD | |
| rs752953829 | 408 | E>K | No |
ExAC gnomAD |
|
| rs2147698109 | 410 | A>G | No | Ensembl | |
| rs892574168 | 410 | A>S | No | TOPMed | |
| rs2085973916 | 412 | Q>H | No | TOPMed | |
| rs2085973891 | 412 | Q>L | No | TOPMed | |
| COSM757724 | 415 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 415 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1474577004 | 417 | L>M | No | gnomAD | |
| rs1419558620 | 418 | E>K | No | gnomAD | |
|
COSM4817996 COSM4817997 |
418 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs982969994 | 422 | L>F | No | Ensembl | |
|
VAR_021828 rs1199457 |
422 | L>W | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1189017174 | 423 | T>A | No |
TOPMed gnomAD |
|
| rs1467902533 | 423 | T>K | No |
TOPMed gnomAD |
|
| rs1487042153 | 425 | Q>L | No | gnomAD | |
|
RCV000436634 CA10441111 rs145983282 |
426 | A>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs773017445 COSM282247 |
426 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1190718311 | 429 | K>E | No | gnomAD | |
| rs138910776 | 432 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2085980973 | 432 | A>V | No | TOPMed | |
| rs1364063524 | 435 | E>D | No | gnomAD | |
| TCGA novel | 438 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759451517 | 441 | A>E | No |
ExAC gnomAD |
|
|
COSM245294 rs759451517 |
441 | A>V | prostate [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs2085981125 | 442 | A>T | No | Ensembl | |
| rs765357245 | 442 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs757594474 | 444 | K>Q | No |
ExAC gnomAD |
|
| TCGA novel | 448 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3845247 COSM3845246 |
452 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2085981626 | 453 | T>I | No | 1000Genomes | |
| TCGA novel | 453 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1213597962 | 454 | L>S | No | gnomAD | |
| rs781592611 | 455 | E>Q | No |
ExAC gnomAD |
|
| rs1479357611 | 456 | D>N | No | gnomAD | |
| rs1481686755 | 457 | Q>E | No | TOPMed | |
| rs1239834730 | 457 | Q>R | No |
TOPMed gnomAD |
|
| rs2085981861 | 458 | E>K | No | Ensembl | |
| rs1250786014 | 459 | L>W | No | gnomAD | |
| rs1420564908 | 460 | K>N | No | gnomAD | |
| rs2085981918 | 461 | E>G | No | Ensembl | |
| rs2085981962 | 464 | E>K | No | TOPMed | |
| rs1394178410 | 467 | C>F | No | gnomAD | |
| rs1394178410 | 467 | C>S | No | gnomAD | |
| rs1435135187 | 472 | L>F | No | gnomAD | |
| rs1029290787 | 474 | T>I | No | TOPMed | |
|
COSM212435 COSM5878176 rs780621441 |
477 | S>L | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs1271460797 | 478 | D>G | No | gnomAD | |
| rs770839474 | 479 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1397390928 | 481 | V>I | No | TOPMed | |
| TCGA novel | 485 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs776359292 | 486 | A>V | No |
ExAC gnomAD |
|
| rs1458715775 | 488 | I>T | No | gnomAD | |
| rs367988197 | 488 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
|
RCV000952801 rs2297871 VAR_049693 |
491 | A>V | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs762980023 | 492 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs751766554 | 493 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1417282495 | 493 | E>K | No | gnomAD | |
| rs767783511 | 494 | Q>E | No |
ExAC gnomAD |
|
| rs767783511 | 494 | Q>K | No |
ExAC gnomAD |
|
| rs750693158 | 495 | E>K | No |
ExAC gnomAD |
|
| rs150822673 | 496 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1310560117 | 501 | S>R | No | TOPMed | |
| rs1602767412 | 502 | P>T | No | Ensembl | |
| rs761892246 | 504 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2086039868 | 504 | T>S | No | Ensembl | |
| rs767583863 | 505 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs2086039982 | 508 | S>A | No | Ensembl | |
| rs149564235 | 509 | D>V | No | ESP | |
| rs372107304 | 510 | A>G | No |
ESP TOPMed |
|
| rs1229522307 | 510 | A>P | No | gnomAD | |
|
COSM1124431 rs1229522307 |
510 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs372107304 | 510 | A>V | No |
ESP TOPMed |
|
| rs1183106241 | 513 | T>P | No |
TOPMed gnomAD |
|
|
COSM3845251 COSM3845250 |
514 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1469073 COSM5167417 |
516 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs766819113 | 518 | R>H | No |
ExAC TOPMed gnomAD |
|
|
COSM1124432 rs201012366 RCV000729731 |
520 | A>V | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes NCI-TCGA TOPMed dbSNP gnomAD |
| COSM1124433 | 522 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2086040275 | 522 | M>V | No | TOPMed | |
| rs961344072 | 524 | K>E | No |
TOPMed gnomAD |
|
| rs1225209923 | 527 | V>A | No |
TOPMed gnomAD |
|
| rs779570822 | 528 | E>K | No |
ExAC gnomAD |
|
| rs1334927161 | 532 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs781708189 | 532 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1214052146 | 534 | A>S | No | Ensembl | |
| rs972730854 | 538 | A>S | No | TOPMed | |
|
COSM5831315 COSM1469074 |
538 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1216281009 | 541 | R>S | No | gnomAD | |
| rs1265238263 | 542 | K>N | No | gnomAD | |
| rs2086040562 | 543 | M>I | No | gnomAD | |
| rs375394985 | 547 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs2086040603 | 548 | S>R | No | TOPMed | |
| rs1187148670 | 549 | Q>H | No |
TOPMed gnomAD |
|
| TCGA novel | 556 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs779966216 | 556 | Q>K | No | ExAC | |
| rs749084945 | 558 | Q>R | No |
ExAC gnomAD |
|
| rs1280981607 | 559 | D>H | No | gnomAD | |
| rs1286023213 | 559 | D>V | No | Ensembl | |
| rs766652806 | 560 | N>H | No |
ExAC gnomAD |
|
| rs369989076 | 561 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| COSM1124434 | 563 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 563 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1232507555 | 566 | L>S | No |
TOPMed gnomAD |
|
| COSM1124435 | 569 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs759996313 | 570 | N>D | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 570 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4819962 COSM4819961 |
574 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 576 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 577 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1396363982 | 577 | E>V | No | TOPMed | |
| rs372551720 | 578 | L>M | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 579 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1296563951 | 582 | L>F | No | TOPMed | |
|
COSM3562978 COSM3094949 |
583 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs375947276 | 584 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM5200758 COSM457922 |
588 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs866511476 | 589 | A>V | No | Ensembl | |
| TCGA novel | 590 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 591 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750039222 | 592 | A>P | No |
ExAC gnomAD |
|
| rs759941504 | 595 | S>N | No |
ExAC gnomAD |
|
| rs1360706286 | 596 | E>D | No | gnomAD | |
|
COSM1124436 COSM5566491 rs765737631 |
597 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs776119196 | 597 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1280036786 | 598 | R>C | No |
TOPMed gnomAD |
|
| rs1332924923 | 598 | R>H | No | gnomAD | |
| rs1391886320 | 599 | R>C | No | gnomAD | |
|
COSM4930317 COSM4930316 |
600 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2086170267 | 600 | K>T | No | TOPMed | |
| rs374256182 | 601 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA gnomAD |
| rs764512941 | 601 | R>H | No |
ExAC TOPMed gnomAD |
|
|
COSM4840593 COSM4840592 |
602 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs755600884 | 606 | E>K | No |
ExAC gnomAD |
|
| rs2086170408 | 607 | G>V | No | Ensembl | |
| rs2086170464 | 611 | D>A | No | Ensembl | |
| rs1269547714 | 612 | L>M | No |
TOPMed gnomAD |
|
| rs867055645 | 613 | K>R | No | Ensembl | |
| COSM1124437 | 614 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs765972849 | 617 | N>D | No |
ExAC gnomAD |
|
| rs2086170578 | 622 | L>F | No | gnomAD | |
| rs753527161 | 623 | L>V | No |
ExAC gnomAD |
|
| TCGA novel | 624 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM488547 | 626 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1468247585 | 628 | S>Y | No | gnomAD | |
| rs1269829378 | 630 | E>G | No | gnomAD | |
| rs1569246232 | 630 | E>Q | No | Ensembl | |
| rs778734440 | 631 | R>C | No |
ExAC TOPMed gnomAD |
|
|
rs201310458 COSM2151166 COSM3406548 |
631 | R>H | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs201310458 | 631 | R>L | No |
ExAC TOPMed gnomAD |
|
|
COSM6187522 COSM6187521 |
632 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 635 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1418499798 | 637 | N>T | No | TOPMed | |
| rs1310643596 | 639 | E>D | No | gnomAD | |
|
RCV002224913 rs2086170773 |
639 | E>Q | No |
ClinVar TOPMed dbSNP |
|
| rs1172275787 | 641 | R>Q | No |
TOPMed gnomAD |
|
| rs377723545 | 641 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 642 | M>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs747540638 | 643 | M>T | No | Ensembl | |
| rs2147723215 | 643 | M>V | No | Ensembl | |
| TCGA novel | 644 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1186430087 | 645 | N>S | No | gnomAD | |
| rs966046535 | 647 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs764878951 | 647 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs752481790 | 648 | V>I | No |
ExAC gnomAD |
|
| rs758153286 | 649 | Q>E | No |
ExAC gnomAD |
|
| rs777726889 | 649 | Q>R | No |
ExAC gnomAD |
|
| rs751493164 | 651 | M>V | No |
ExAC gnomAD |
|
|
COSM5178335 COSM1469075 rs35473790 |
652 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3562979 COSM3562980 |
654 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2086174282 | 654 | M>V | No | Ensembl | |
| rs1311024727 | 655 | K>Q | No | gnomAD | |
| rs781480987 | 656 | E>D | No |
ExAC gnomAD |
|
|
COSM3845252 COSM3845253 |
659 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2086174370 | 666 | Q>K | No | Ensembl | |
| rs1420669256 | 667 | K>E | No | TOPMed | |
| rs1334272221 | 667 | K>T | No | gnomAD | |
| rs1602787481 | 669 | D>Y | No | Ensembl | |
| rs2086174466 | 677 | E>K | No | Ensembl | |
| rs146856765 | 678 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
|
rs1029695155 COSM4110737 COSM4110736 |
680 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
rs752327748 COSM1737007 |
680 | R>H | central_nervous_system [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs1303311901 | 684 | Y>H | No | gnomAD | |
|
COSM5229297 COSM1491197 |
685 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1212881463 | 689 | L>R | No | gnomAD | |
| rs2086218663 | 693 | F>I | No | TOPMed | |
| rs183351324 | 693 | F>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs757192416 | 694 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs781290799 | 698 | N>K | No |
ExAC gnomAD |
|
| rs1194824037 | 698 | N>S | No |
TOPMed gnomAD |
|
| rs750481276 | 700 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs756293225 | 702 | R>C | No |
ExAC gnomAD |
|
| rs780288402 | 702 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| TCGA novel | 704 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1433642341 | 704 | T>M | No | gnomAD | |
| rs754084168 | 712 | K>R | No |
ExAC gnomAD |
|
|
rs370365535 RCV000727932 |
713 | R>C | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM1124438 rs753323782 COSM5048104 |
713 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs1319394848 | 714 | L>F | No | gnomAD | |
| rs2086221103 | 716 | D>G | No | TOPMed | |
| rs1231023656 | 719 | Q>R | No |
TOPMed gnomAD |
|
| rs779212620 | 722 | R>P | No |
ExAC TOPMed gnomAD |
|
|
RCV000995939 COSM1124441 rs779212620 |
722 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1124440 rs866279560 |
722 | R>W | Variant assessed as Somatic; MODERATE impact. endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
| rs374798689 | 724 | V>F | No |
ESP TOPMed gnomAD |
|
| rs748465064 | 725 | A>T | No |
ExAC gnomAD |
|
|
rs2086221268 RCV001172014 |
726 | D>N | No |
ClinVar Ensembl dbSNP |
|
|
rs199529123 RCV002282195 RCV000513789 CA10441281 |
728 | R>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1240274269 COSM1124442 |
728 | R>W | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 729 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 730 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2086221344 | 733 | S>N | No | Ensembl | |
| rs747565282 | 734 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs769333706 | 734 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs769333706 | 734 | R>L | No |
ExAC gnomAD |
|
| TCGA novel | 736 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs371136649 | 742 | R>Q | No |
TOPMed gnomAD |
|
| rs2086221449 | 744 | K>N | No | TOPMed | |
| rs887125115 | 745 | N>H | No | TOPMed | |
| rs780556114 | 745 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2086256568 | 746 | W>C | No | Ensembl | |
| rs2086256589 | 747 | L>F | No | Ensembl | |
| rs1484712536 | 748 | G>* | No | gnomAD | |
| rs1423883173 | 750 | E>K | No | gnomAD | |
| rs1293873740 | 751 | I>T | No | TOPMed | |
| rs1238254152 | 752 | E>D | No | gnomAD | |
| rs1009462093 | 753 | V>I | No | Ensembl | |
| rs2086256699 | 754 | M>I | No | Ensembl | |
| rs1246538902 | 756 | S>T | No | Ensembl | |
| rs142995994 | 758 | E>G | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 759 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1380032334 | 761 | K>R | No | gnomAD | |
| rs371918566 | 762 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
|
RCV002269722 rs755110694 |
762 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs371918566 | 762 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs765340796 | 763 | H>Y | No |
ExAC TOPMed gnomAD |
|
| rs1037584512 | 765 | N>S | No |
TOPMed gnomAD |
|
| rs906342959 | 766 | D>Y | No |
TOPMed gnomAD |
|
|
COSM4420668 COSM4420667 |
768 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1332869851 | 770 | D>G | No |
TOPMed gnomAD |
|
| rs1332869851 | 770 | D>V | No |
TOPMed gnomAD |
|
| rs1002077394 | 772 | K>E | No |
TOPMed gnomAD |
|
| rs2147734383 | 772 | K>M | No | Ensembl | |
| COSM1124443 | 775 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM5207939 COSM457923 |
777 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4856204 COSM4856203 |
777 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2086257055 | 779 | A>V | No | TOPMed | |
|
COSM3562982 COSM3562981 |
780 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1375842784 | 783 | E>* | No | gnomAD | |
| rs151118857 | 783 | E>D | No |
ESP TOPMed |
|
| rs778168357 | 783 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs1375842784 | 783 | E>K | No | gnomAD | |
| rs778168357 | 783 | E>V | No |
ExAC TOPMed gnomAD |
|
| rs747512241 | 784 | K>E | No |
ExAC gnomAD |
|
| rs747512241 | 784 | K>Q | No |
ExAC gnomAD |
|
| rs368594018 | 785 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 785 | K>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1199815993 | 787 | S>P | No |
TOPMed gnomAD |
|
| rs1199815993 | 787 | S>T | No |
TOPMed gnomAD |
|
| TCGA novel | 789 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs866149939 | 789 | E>K | No | Ensembl | |
| rs781733037 | 790 | N>K | No |
ExAC gnomAD |
|
|
rs2086257296 RCV001311399 |
791 | P>L | No |
ClinVar Ensembl dbSNP |
|
| rs748704659 | 792 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs748704659 | 792 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs768252409 | 793 | P>L | No |
ExAC gnomAD |
|
| rs2086257352 | 793 | P>S | No | TOPMed | |
| rs1237845470 | 795 | L>F | No | gnomAD | |
| rs575516116 | 796 | R>Q | No | TOPMed | |
| rs747858150 | 796 | R>W | No |
ExAC gnomAD |
|
| rs140043924 | 798 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs1307815371 | 798 | R>H | No |
TOPMed gnomAD |
|
| rs1222737577 | 802 | L>P | No |
TOPMed gnomAD |
|
| rs2086258054 | 803 | T>A | No | Ensembl | |
| rs2086258099 | 805 | V>L | No | Ensembl | |
|
COSM3845254 COSM1212469 rs200516198 |
806 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
| rs185542197 | 806 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1388250025 | 807 | G>V | No | gnomAD | |
| rs752637026 | 809 | V>A | No |
1000Genomes ExAC |
|
| rs978968007 | 810 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1443495486 | 811 | E>K | No | gnomAD | |
| rs2147734534 | 813 | E>* | No | 1000Genomes | |
|
rs776414350 RCV000512730 CA10441329 |
815 | S>P | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| rs759577350 | 816 | I>V | No |
ExAC gnomAD |
|
| rs1602802091 | 818 | K>E | No | Ensembl | |
| rs1271556603 | 821 | E>V | No | gnomAD | |
| rs2086258434 | 822 | S>N | No | Ensembl | |
| rs756618496 | 831 | S>N | No |
ExAC gnomAD |
|
|
COSM6119241 COSM6119240 |
831 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs780716663 | 832 | A>V | No |
ExAC gnomAD |
|
| rs2086286256 | 839 | Q>L | No |
TOPMed gnomAD |
|
| TCGA novel | 840 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 841 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760173748 | 846 | S>G | No |
1000Genomes ExAC gnomAD |
|
| rs2086286306 | 846 | S>R | No | Ensembl | |
| rs1397870709 | 848 | D>E | No | gnomAD | |
|
COSM3914174 COSM3914175 |
852 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs202110821 | 852 | Q>L | No |
ESP TOPMed gnomAD |
|
|
COSM488548 rs868121736 |
853 | R>C | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs746727117 | 853 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs746727117 | 853 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs868121736 | 853 | R>S | No |
TOPMed gnomAD |
|
| rs2086286443 | 855 | E>V | No | Ensembl | |
| rs745655381 | 856 | N>K | No | ExAC | |
| rs1349025933 | 859 | T>A | No |
TOPMed gnomAD |
|
| rs1216463826 | 861 | L>V | No |
TOPMed gnomAD |
|
| rs769663031 | 862 | E>K | No |
ExAC gnomAD |
|
| rs2086286558 | 863 | A>V | No | Ensembl | |
| rs2086286591 | 865 | C>Y | No | TOPMed | |
|
COSM6119238 COSM6119239 |
866 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1218235500 | 866 | A>V | No |
TOPMed gnomAD |
|
| TCGA novel | 869 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2086286678 | 870 | L>F | No | Ensembl | |
| rs749332695 | 871 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs2086286744 | 873 | E>Q | No | TOPMed | |
| rs377673998 | 874 | L>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs377673998 | 874 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs756869029 | 878 | K>N | No |
ExAC gnomAD |
|
| rs751167975 | 878 | K>R | No |
ExAC gnomAD |
|
| rs780723234 | 879 | I>L | No |
ExAC gnomAD |
|
| TCGA novel | 879 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2086290787 | 882 | S>I | No | Ensembl | |
| TCGA novel | 883 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 890 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1124444 | 896 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1380704037 | 896 | A>S | No | gnomAD | |
| rs755941319 | 898 | M>T | No |
ExAC gnomAD |
|
| rs1379525366 | 899 | Q>R | No |
TOPMed gnomAD |
|
| rs779943103 | 900 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs1176904942 | 902 | L>P | No | TOPMed | |
| rs2086290945 | 906 | R>* | No | Ensembl | |
|
rs1377093411 COSM3845256 COSM3845255 |
906 | R>Q | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs2086290988 | 909 | F>L | No | Ensembl | |
| rs1304778354 | 910 | A>T | No | gnomAD | |
| rs2086291051 | 911 | E>K | No | Ensembl | |
|
COSM5214879 COSM457925 rs768717763 |
912 | I>L | breast Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated ExAC gnomAD NCI-TCGA Cosmic |
| rs774417639 | 912 | I>M | No |
ExAC gnomAD |
|
| rs188086916 | 913 | E>K | No |
1000Genomes ExAC gnomAD |
|
| rs188086916 | 913 | E>Q | No |
1000Genomes ExAC gnomAD |
|
| rs772285888 | 914 | T>I | No |
ExAC gnomAD |
|
|
COSM6187519 COSM6187520 |
914 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs773335132 | 915 | E>D | No |
ExAC TOPMed gnomAD |
|
|
TCGA novel rs2086291176 |
919 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
|
rs761092591 COSM1190576 |
921 | V>L | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs1803338790 | 923 | M>L | No | TOPMed | |
| rs1803338790 | 923 | M>V | No | TOPMed | |
| TCGA novel | 924 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM275744 | 929 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1264606746 | 929 | E>Q | No | gnomAD | |
| rs1284572424 | 932 | L>P | No | gnomAD | |
| rs1217584638 | 937 | Q>K | No | gnomAD | |
| rs2086294096 | 943 | M>K | No | TOPMed | |
| rs1258362309 | 944 | A>V | No | gnomAD | |
| TCGA novel | 949 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs373986696 | 949 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs1569252989 | 952 | V>I | No | Ensembl | |
| TCGA novel | 956 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2067965366 | 956 | E>K | No |
TOPMed gnomAD |
|
| rs2086294198 | 957 | Q>R | No | Ensembl | |
| rs2086294239 | 960 | L>P | No | Ensembl | |
| rs1276840801 | 963 | L>V | No | TOPMed | |
| rs1488728078 | 964 | K>E | No | gnomAD | |
| rs1221154738 | 966 | Q>E | No |
TOPMed gnomAD |
|
|
COSM4847778 COSM4847779 |
971 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1363711150 | 973 | M>T | No | gnomAD | |
| rs759992616 | 974 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs775893969 | 974 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
rs759945460 RCV001752775 |
975 | E>G | No |
ClinVar Ensembl dbSNP |
|
| rs1049285117 | 978 | E>K | No |
TOPMed gnomAD |
|
| TCGA novel | 978 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM5787231 COSM5787230 rs763886186 |
985 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
COSM5220671 COSM457926 |
986 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 989 | I>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2086298131 | 989 | I>V | No | TOPMed | |
| rs750071716 | 990 | I>V | No |
ExAC gnomAD |
|
| rs760253244 | 991 | K>R | No |
ExAC gnomAD |
|
| rs2086299833 | 993 | K>R | No | TOPMed | |
| rs2086299856 | 995 | T>I | No |
TOPMed gnomAD |
|
| rs770098377 | 996 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs776050506 | 999 | V>I | No |
ExAC gnomAD |
|
| rs1330592616 | 1005 | H>N | No | TOPMed | |
| rs139379413 | 1005 | H>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs769210689 | 1006 | L>F | No |
ExAC gnomAD |
|
|
COSM3562984 COSM3562983 |
1007 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs772647700 | 1009 | D>E | No |
ExAC gnomAD |
|
| rs1462934009 | 1011 | L>I | No | gnomAD | |
| rs2086300031 | 1011 | L>R | No | Ensembl | |
| rs1389006637 | 1013 | S>F | No |
TOPMed gnomAD |
|
| COSM1285787 | 1017 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2086300125 | 1023 | P>S | No | TOPMed | |
| rs145921459 | 1028 | S>P | No |
ESP TOPMed gnomAD |
|
| rs961874200 | 1029 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs961874200 | 1029 | R>G | No |
TOPMed gnomAD |
|
| rs772278137 | 1029 | R>H | No |
TOPMed gnomAD |
|
| rs772278137 | 1029 | R>L | No |
TOPMed gnomAD |
|
| rs2086302371 | 1030 | V>I | No | Ensembl | |
| TCGA novel | 1032 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774869974 | 1033 | K>E | No |
ExAC gnomAD |
|
|
COSM4110739 COSM4110738 |
1034 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1245546980 | 1036 | E>Q | No | gnomAD | |
| rs1476746812 | 1039 | M>R | No | gnomAD | |
| rs1476746812 | 1039 | M>T | No | gnomAD | |
| rs191024322 | 1042 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs374189816 | 1043 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs374189816 | 1043 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs1168128155 | 1045 | K>N | No | gnomAD | |
| TCGA novel | 1045 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1354679298 | 1046 | Y>C | No | TOPMed | |
| rs2086302621 | 1047 | C>G | No | gnomAD | |
| rs1330809038 | 1048 | S>L | No | gnomAD | |
| rs971837109 | 1048 | S>P | No |
TOPMed gnomAD |
|
| rs775090006 | 1050 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs2009839196 | 1050 | H>Y | No | TOPMed | |
| rs1382914519 | 1056 | E>V | No |
TOPMed gnomAD |
|
| rs2147739821 | 1058 | G>V | No | Ensembl | |
| COSM71345 | 1060 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1347491581 | 1060 | G>R | No | gnomAD | |
| rs1319252752 | 1060 | G>V | No |
TOPMed gnomAD |
|
| COSM2149696 | 1062 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs764086585 | 1063 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs751590178 | 1064 | E>K | No |
ExAC gnomAD |
|
| rs368393092 | 1065 | G>E | No |
ESP TOPMed |
|
| rs757392129 | 1066 | D>N | No |
ExAC gnomAD |
|
| rs750517629 | 1068 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs2086302987 | 1071 | K>Q | No | TOPMed | |
| rs773185477 | 1073 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs773185477 | 1073 | T>S | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1074 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1200236367 | 1074 | K>R | No |
TOPMed gnomAD |
|
| rs2086303034 | 1075 | L>S | No | gnomAD | |
| rs2086303077 | 1077 | K>T | No | Ensembl | |
| rs755374957 | 1078 | V>L | No |
ExAC gnomAD |
|
| rs755374957 | 1078 | V>M | No |
ExAC gnomAD |
|
| rs1316656386 | 1082 | N>S | No | gnomAD | |
| rs112697180 | 1084 | Q>R | No | Ensembl | |
| TCGA novel | 1088 | C>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs972114294 | 1093 | G>R | No | Ensembl | |
| rs1253753642 | 1095 | K>M | No | gnomAD | |
| TCGA novel | 1101 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1102 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs766478856 | 1105 | D>N | No |
ExAC gnomAD |
|
| rs986098025 | 1111 | C>S | No | Ensembl | |
| rs2086350930 | 1111 | C>Y | No | Ensembl | |
| rs2147744978 | 1113 | D>A | No | Ensembl | |
| rs2086350952 | 1113 | D>Y | No | TOPMed | |
| rs192686009 | 1114 | P>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs753989464 | 1115 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs2086351003 | 1115 | T>P | No | TOPMed | |
| TCGA novel | 1116 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1251243736 | 1118 | R>Q | No |
TOPMed gnomAD |
|
| rs1339046929 | 1118 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| COSM6119237 | 1119 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1420948728 | 1120 | R>C | No |
TOPMed gnomAD |
|
| rs149300695 | 1120 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs149300695 | 1120 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1377145177 | 1121 | Q>L | No |
TOPMed gnomAD |
|
| rs1377145177 | 1121 | Q>R | No |
TOPMed gnomAD |
|
| rs745869599 | 1123 | G>D | No |
1000Genomes gnomAD |
|
| rs1223720426 | 1125 | D>Y | No | gnomAD | |
| rs1264658125 | 1127 | L>W | No |
TOPMed gnomAD |
|
| rs1602822720 | 1129 | T>P | No |
TOPMed gnomAD |
|
| rs2086358579 | 1130 | V>I | No | TOPMed | |
| rs761719985 | 1132 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
rs772078243 COSM4110740 |
1132 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| COSM1124448 | 1135 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs773241201 | 1138 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs773241201 | 1138 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs2086358756 | 1140 | F>L | No | Ensembl | |
| TCGA novel | 1143 | E>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1569256239 | 1145 | P>L | No | Ensembl | |
| TCGA novel | 1146 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1124449 | 1147 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1124450 | 1153 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2086358901 | 1154 | F>C | No | TOPMed | |
| rs754057176 | 1154 | F>I | No |
ExAC gnomAD |
|
| COSM3562985 | 1157 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1477625710 | 1158 | V>F | No |
TOPMed gnomAD |
|
|
COSM1491198 rs1477625710 |
1158 | V>I | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs2147745858 | 1159 | C>F | No | Ensembl | |
| rs2086358973 | 1161 | T>A | No | gnomAD | |
| rs759689033 | 1162 | P>S | No |
ExAC gnomAD |
|
| COSM1124452 | 1163 | N>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs141822498 | 1163 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
|
RCV002265446 rs753011575 |
1164 | S>G | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2086359131 | 1164 | S>N | No | Ensembl | |
| rs2086360527 | 1169 | E>K | No | gnomAD | |
| rs146072530 | 1170 | M>I | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1171 | C>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1427129347 | 1172 | D>N | No |
TOPMed gnomAD |
|
| rs1188224227 | 1176 | V>M | No | TOPMed | |
| rs747032204 | 1178 | S>P | No |
ExAC gnomAD |
|
| COSM3845257 | 1179 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1200810212 | 1181 | T>I | No |
TOPMed gnomAD |
|
| rs867427365 | 1182 | P>A | No | Ensembl | |
| rs1016745446 | 1182 | P>L | No | TOPMed | |
| rs867427365 | 1182 | P>S | No | Ensembl | |
| rs776704047 | 1183 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs866463544 | 1185 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs2086360806 | 1187 | P>R | No | TOPMed | |
| rs1429533603 | 1187 | P>S | No | gnomAD | |
| rs190558035 | 1189 | D>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs376656540 | 1190 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1383930332 | 1191 | P>A | No |
TOPMed gnomAD |
|
|
VAR_049694 rs1046485 |
1193 | L>S | No |
UniProt Ensembl dbSNP |
|
| rs765403609 | 1195 | H>R | No |
ExAC gnomAD |
|
| rs1297279529 | 1195 | H>Y | No | TOPMed | |
| rs1046487 | 1196 | V>A | No | TOPMed | |
| rs1046487 | 1196 | V>G | No | TOPMed | |
| rs775733399 | 1197 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs763208348 | 1197 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs2086361088 | 1198 | T>R | No | TOPMed | |
|
rs1569256395 RCV000678367 |
1199 | E>K | No |
ClinVar Ensembl dbSNP |
|
| rs2086361122 | 1201 | Q>E | No | Ensembl | |
| rs764581566 | 1201 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs1046488 | 1202 | E>Q | No | Ensembl | |
| rs2147746149 | 1203 | N>H | No | Ensembl | |
| COSM3562987 | 1204 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1046490 | 1205 | A>P | No | Ensembl | |
| TCGA novel | 1205 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1316460042 | 1206 | P>A | No | gnomAD | |
| rs1216726612 | 1207 | G>A | No |
TOPMed gnomAD |
|
| rs1216726612 | 1207 | G>E | No |
TOPMed gnomAD |
|
| rs987494023 | 1207 | G>R | No | TOPMed | |
| rs1244119334 | 1210 | K>N | No | gnomAD | |
| rs752008919 | 1211 | K>R | No |
ExAC gnomAD |
|
| rs1183312840 | 1212 | R>Q | No | gnomAD | |
| COSM4696147 | 1212 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs200955178 | 1213 | A>V | No |
ExAC gnomAD |
|
| rs754571745 | 1215 | A>D | No |
ExAC gnomAD |
|
| rs1364917108 | 1216 | S>N | No |
TOPMed gnomAD |
|
| rs369147441 | 1219 | S>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs369147441 | 1219 | S>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1346539087 | 1221 | F>C | No |
TOPMed gnomAD |
|
| rs1346539087 | 1221 | F>S | No |
TOPMed gnomAD |
|
| rs1346539087 | 1221 | F>Y | No |
TOPMed gnomAD |
|
| COSM1469079 | 1223 | G>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777559134 | 1223 | G>S | No |
ExAC gnomAD |
|
| rs746795186 | 1223 | G>V | No |
ExAC gnomAD |
|
| TCGA novel | 1224 | C>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1454486908 | 1225 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2086361776 | 1225 | S>P | No | gnomAD | |
| rs1474583661 | 1226 | P>A | No | TOPMed | |
| rs1244003577 | 1226 | P>L | No |
TOPMed gnomAD |
|
| rs776581139 | 1228 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1451072077 | 1229 | E>D | No | Ensembl | |
| rs2086361932 | 1230 | E>D | No | TOPMed | |
| rs1422012366 | 1233 | H>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
2 associated diseases with O95239
[MIM: 300923]: Intellectual developmental disorder, X-linked 100 (XLID100)
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. XLID100 clinical features include intellectual disability, epilepsy, microcephaly and cortical malformations. . Note=The disease may be caused by variants affecting the gene represented in this entry.
[MIM: 313490]: Taurodontism, microdontia, and dens invaginatus (TMDI)
An X-linked recessive disorder characterized by the triad of taurodontism, microdontia, and dens invaginatus. Taurodontism is a rare developmental dental condition that largely affects the molar teeth and may be associated with hypodontia. In taurodontism, the crown of the molar tooth and pulp chamber are disproportionately longer than the roots. Microdontia, a mild form of hypodontia, is defined as smaller than normal teeth with shortened crowns (vertically or mesio-distally) and loss of contact areas between the teeth. Dens invaginatus or dens invagination is a tooth developmental anomaly that results from either the dental papilla folding into the developing tooth or the entire enamel organ folding into the dental papilla. In both instances, this leads to the formation of a tooth within a tooth. . Note=The disease may be caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. XLID100 clinical features include intellectual disability, epilepsy, microcephaly and cortical malformations. . Note=The disease may be caused by variants affecting the gene represented in this entry.
- An X-linked recessive disorder characterized by the triad of taurodontism, microdontia, and dens invaginatus. Taurodontism is a rare developmental dental condition that largely affects the molar teeth and may be associated with hypodontia. In taurodontism, the crown of the molar tooth and pulp chamber are disproportionately longer than the roots. Microdontia, a mild form of hypodontia, is defined as smaller than normal teeth with shortened crowns (vertically or mesio-distally) and loss of contact areas between the teeth. Dens invaginatus or dens invagination is a tooth developmental anomaly that results from either the dental papilla folding into the developing tooth or the entire enamel organ folding into the dental papilla. In both instances, this leads to the formation of a tooth within a tooth. . Note=The disease may be caused by variants affecting the gene represented in this entry.
Functions
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon cytoplasm | Any cytoplasm that is part of a axon. |
| chromosome | A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. |
| microtubule associated complex | Any multimeric complex connected to a microtubule. |
| midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
| nuclear matrix | The dense fibrillar network lying on the inner side of the nuclear membrane. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| spindle microtubule | Any microtubule that is part of a mitotic or meiotic spindle; anchored at one spindle pole. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| iron-sulfur cluster binding | Binding to an iron-sulfur cluster, a combination of iron and sulfur atoms. |
| metal ion binding | Binding to a metal ion. |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
| microtubule motor activity | A motor activity that generates movement along a microtubule, driven by ATP hydrolysis. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| anterograde axonal transport | The directed movement of organelles or molecules along microtubules from the cell body toward the cell periphery in nerve cell axons. |
| mitotic cytokinesis | A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells. |
| mitotic spindle midzone assembly | The cell cycle process in which the aggregation, arrangement and bonding together of a set of components forms the spindle midzone. |
| mitotic spindle organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle. |
| organelle organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. |
| spindle elongation | The cell cycle process in which the distance is lengthened between poles of the spindle. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q86VH2 | KIF27 | Kinesin-like protein KIF27 | Homo sapiens (Human) | SS |
| Q2M1P5 | KIF7 | Kinesin-like protein KIF7 | Homo sapiens (Human) | EV |
| O75037 | KIF21B | Kinesin-like protein KIF21B | Homo sapiens (Human) | EV |
| Q7Z4S6 | KIF21A | Kinesin-like protein KIF21A | Homo sapiens (Human) | EV |
| Q2VIQ3 | KIF4B | Chromosome-associated kinesin KIF4B | Homo sapiens (Human) | SS |
| Q7M6Z4 | Kif27 | Kinesin-like protein KIF27 | Mus musculus (Mouse) | SS |
| Q9QXL1 | Kif21b | Kinesin-like protein KIF21B | Mus musculus (Mouse) | SS |
| B7ZNG0 | Kif7 | Kinesin-like protein KIF7 | Mus musculus (Mouse) | SS |
| Q9QXL2 | Kif21a | Kinesin-like protein KIF21A | Mus musculus (Mouse) | EV SS |
| Q7M6Z5 | Kif27 | Kinesin-like protein KIF27 | Rattus norvegicus (Rat) | SS |
| F1M5N7 | Kif21b | Kinesin-like protein KIF21B | Rattus norvegicus (Rat) | SS |
| Q58G59 | kif7 | Kinesin-like protein kif7 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKEEVKGIPV | RVALRCRPLV | PKEISEGCQM | CLSFVPGEPQ | VVVGTDKSFT | YDFVFDPSTE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QEEVFNTAVA | PLIKGVFKGY | NATVLAYGQT | GSGKTYSMGG | AYTAEQENEP | TVGVIPRVIQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LLFKEIDKKS | DFEFTLKVSY | LEIYNEEILD | LLCPSREKAQ | INIREDPKEG | IKIVGLTEKT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VLVALDTVSC | LEQGNNSRTV | ASTAMNSQSS | RSHAIFTISL | EQRKKSDKNS | SFRSKLHLVD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LAGSERQKKT | KAEGDRLKEG | ININRGLLCL | GNVISALGDD | KKGGFVPYRD | SKLTRLLQDS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LGGNSHTLMI | ACVSPADSNL | EETLNTLRYA | DRARKIKNKP | IVNIDPQTAE | LNHLKQQVQQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LQVLLLQAHG | GTLPGSITVE | PSENLQSLME | KNQSLVEENE | KLSRGLSEAA | GQTAQMLERI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ILTEQANEKM | NAKLEELRQH | AACKLDLQKL | VETLEDQELK | ENVEIICNLQ | QLITQLSDET |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VACMAAAIDT | AVEQEAQVET | SPETSRSSDA | FTTQHALRQA | QMSKELVELN | KALALKEALA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RKMTQNDSQL | QPIQYQYQDN | IKELELEVIN | LQKEKEELVL | ELQTAKKDAN | QAKLSERRRK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RLQELEGQIA | DLKKKLNEQS | KLLKLKESTE | RTVSKLNQEI | RMMKNQRVQL | MRQMKEDAEK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FRQWKQKKDK | EVIQLKERDR | KRQYELLKLE | RNFQKQSNVL | RRKTEEAAAA | NKRLKDALQK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| QREVADKRKE | TQSRGMEGTA | ARVKNWLGNE | IEVMVSTEEA | KRHLNDLLED | RKILAQDVAQ |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LKEKKESGEN | PPPKLRRRTF | SLTEVRGQVS | ESEDSITKQI | ESLETEMEFR | SAQIADLQQK |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LLDAESEDRP | KQRWENIATI | LEAKCALKYL | IGELVSSKIQ | VSKLESSLKQ | SKTSCADMQK |
| 910 | 920 | 930 | 940 | 950 | 960 |
| MLFEERNHFA | EIETELQAEL | VRMEQQHQEK | VLYLLSQLQQ | SQMAEKQLEE | SVSEKEQQLL |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| STLKCQDEEL | EKMREVCEQN | QQLLRENEII | KQKLTLLQVA | SRQKHLPKDT | LLSPDSSFEY |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| VPPKPKPSRV | KEKFLEQSMD | IEDLKYCSEH | SVNEHEDGDG | DDDEGDDEEW | KPTKLVKVSR |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| KNIQGCSCKG | WCGNKQCGCR | KQKSDCGVDC | CCDPTKCRNR | QQGKDSLGTV | ERTQDSEGSF |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| KLEDPTEVTP | GLSFFNPVCA | TPNSKILKEM | CDVEQVLSKK | TPPAPSPFDL | PELKHVATEY |
| 1210 | 1220 | 1230 | |||
| QENKAPGKKK | KRALASNTSF | FSGCSPIEEE | AH |