Q06418
Gene name |
TYRO3 (BYK, DTK, RSE, SKY, TIF) |
Protein name |
Tyrosine-protein kinase receptor TYRO3 |
Names |
EC 2.7.10.1 , Tyrosine-protein kinase BYK , Tyrosine-protein kinase DTK , Tyrosine-protein kinase RSE , Tyrosine-protein kinase SKY , Tyrosine-protein kinase TIF |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7301 |
EC number |
2.7.10.1: Protein-tyrosine kinases |
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Accessory elements
672-697 (Activation loop from InterPro)
Target domain |
518-790 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
Autoinhibited structure

Activated structure

2 structures for Q06418
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
1RHF | X-ray | 196 A | A/B | 41-222 | PDB |
AF-Q06418-F1 | Predicted | AlphaFoldDB |
929 variants for Q06418
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs751069987 RCV001374533 |
543 | S>F | Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
rs1029507402 | 2 | A>P | No |
TOPMed gnomAD |
|
rs1029507402 | 2 | A>T | No |
TOPMed gnomAD |
|
rs1177640254 | 3 | L>M | No |
TOPMed gnomAD |
|
rs2052127406 | 4 | R>G | No | Ensembl | |
rs956743212 | 4 | R>T | No | TOPMed | |
rs2052127406 | 4 | R>W | No | Ensembl | |
rs1595497324 | 5 | R>Q | No | TOPMed | |
rs2052127655 | 6 | S>I | No |
TOPMed gnomAD |
|
rs1009690698 | 7 | M>I | No | TOPMed | |
rs2140813581 | 7 | M>R | No | Ensembl | |
rs2052127711 | 7 | M>V | No | TOPMed | |
rs1255919480 | 8 | G>R | No |
TOPMed gnomAD |
|
rs2140813587 | 9 | R>Q | No | 1000Genomes | |
rs2052127816 | 10 | P>A | No | TOPMed | |
rs1595497338 | 10 | P>Q | No | Ensembl | |
rs1595497338 | 10 | P>R | No | Ensembl | |
rs2052127816 | 10 | P>S | No | TOPMed | |
rs1210540090 | 12 | L>F | No |
TOPMed gnomAD |
|
rs1005142711 | 12 | L>P | No | Ensembl | |
rs2052128365 | 13 | P>L | No | gnomAD | |
rs1307034188 | 14 | P>Q | No | TOPMed | |
rs2052128593 | 14 | P>S | No | TOPMed | |
rs1220758670 | 15 | L>P | No |
TOPMed gnomAD |
|
rs2052128830 | 16 | P>R | No | Ensembl | |
rs2052129313 | 18 | P>L | No | Ensembl | |
rs2052129187 | 18 | P>S | No | TOPMed | |
VAR_045886 rs17854578 |
21 | P>L | No |
UniProt Ensembl dbSNP |
|
rs1372061948 | 22 | R>G | No |
TOPMed gnomAD |
|
rs2052129700 | 23 | L>V | No | gnomAD | |
rs1478605676 | 24 | G>R | No | TOPMed | |
rs1478605676 | 24 | G>W | No | TOPMed | |
rs971330621 | 28 | A>G | No |
TOPMed gnomAD |
|
rs2140813704 | 29 | A>G | No | Ensembl | |
rs1424811307 | 30 | L>M | No |
TOPMed gnomAD |
|
rs1258668981 | 32 | S>F | No |
TOPMed gnomAD |
|
rs2052130339 | 34 | L>R | No | Ensembl | |
rs981027333 | 35 | L>F | No | TOPMed | |
rs1480587125 | 36 | P>S | No | TOPMed | |
rs1251983478 | 37 | E>A | No |
TOPMed gnomAD |
|
rs2052130572 | 37 | E>K | No | gnomAD | |
rs2140813729 | 38 | S>F | No | 1000Genomes | |
rs2140813731 | 39 | A>T | No | Ensembl | |
rs2052130720 | 39 | A>V | No |
TOPMed gnomAD |
|
rs1433521287 | 40 | A>S | No | gnomAD | |
rs936343709 | 41 | A>T | No |
TOPMed gnomAD |
|
rs2055647223 | 45 | L>F | No | gnomAD | |
rs1433395738 | 46 | M>I | No |
TOPMed gnomAD |
|
rs748024537 | 46 | M>L | No |
ExAC TOPMed gnomAD |
|
rs748024537 | 46 | M>V | No |
ExAC TOPMed gnomAD |
|
rs983261458 | 49 | P>L | No |
TOPMed gnomAD |
|
rs983261458 | 49 | P>R | No |
TOPMed gnomAD |
|
rs1332520039 | 50 | V>L | No | gnomAD | |
rs773332673 | 52 | L>V | No |
ExAC gnomAD |
|
rs762322405 | 53 | T>I | No |
ExAC gnomAD |
|
rs1342291893 | 54 | V>L | No |
TOPMed gnomAD |
|
rs1595498400 | 56 | Q>R | No | Ensembl | |
rs2055647671 | 57 | G>E | No | TOPMed | |
rs376745245 | 59 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
rs1268737181 | 59 | P>S | No | gnomAD | |
rs759242537 | 60 | V>M | No |
ExAC gnomAD |
|
rs1555395781 | 61 | K>E | No | Ensembl | |
TCGA novel | 62 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1272474342 | 63 | N>S | No |
TOPMed gnomAD |
|
rs1452337239 | 65 | S>T | No | gnomAD | |
rs571813548 | 66 | V>A | No | Ensembl | |
rs915230404 | 67 | E>D | No |
TOPMed gnomAD |
|
rs148972694 | 68 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
rs2055648355 | 69 | M>L | No | Ensembl | |
rs753026091 | 70 | E>V | No |
ExAC gnomAD |
|
rs761074506 | 72 | P>A | No |
ExAC TOPMed gnomAD |
|
rs1391906779 | 73 | D>G | No | gnomAD | |
rs55893020 | 74 | I>M | No |
ExAC TOPMed gnomAD |
|
COSM1708037 rs2140816582 |
75 | Q>* | skin [Cosmic] | No |
cosmic curated Ensembl |
rs757217563 | 75 | Q>R | No |
ExAC gnomAD |
|
rs1411195682 | 76 | W>* | No | gnomAD | |
rs2055648694 | 76 | W>R | No | TOPMed | |
rs942112509 | 77 | V>M | No |
TOPMed gnomAD |
|
rs758639545 | 79 | D>G | No |
ExAC gnomAD |
|
rs143085420 | 79 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
rs1271565283 | 80 | G>V | No | gnomAD | |
rs2055649253 | 81 | A>S | No | Ensembl | |
rs2055649253 | 81 | A>T | No | Ensembl | |
rs1356817343 | 81 | A>V | No | gnomAD | |
rs112313613 | 83 | V>A | No | Ensembl | |
rs112313613 | 83 | V>G | No | Ensembl | |
COSM264508 | 85 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 86 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs747936240 | 89 | L>V | No |
ExAC TOPMed gnomAD |
|
rs2055649458 | 90 | Y>C | No | TOPMed | |
COSM700664 | 90 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2055649599 | 92 | P>Q | No | gnomAD | |
rs924055339 | 92 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
rs199972928 | 95 | E>G | No |
ESP ExAC TOPMed gnomAD |
|
rs749257762 | 95 | E>K | No |
ExAC gnomAD |
|
rs2140816737 | 98 | W>R | No | Ensembl | |
rs771688086 | 99 | I>M | No |
ExAC gnomAD |
|
rs775142130 | 100 | G>S | No |
ExAC TOPMed gnomAD |
|
rs760982988 | 101 | F>L | No |
ExAC TOPMed gnomAD |
|
rs753643768 | 103 | S>R | No |
ExAC gnomAD |
|
rs778866231 | 107 | V>A | No |
ExAC gnomAD |
|
rs1231685578 | 109 | R>C | No | gnomAD | |
rs867342220 | 109 | R>H | No | gnomAD | |
rs867342220 | 109 | R>L | No | gnomAD | |
rs1370562324 | 111 | D>N | No |
TOPMed gnomAD |
|
rs1208554096 | 112 | A>T | No |
TOPMed gnomAD |
|
rs779525388 | 113 | G>C | No |
ExAC gnomAD |
|
rs1432142412 | 114 | R>L | No |
TOPMed gnomAD |
|
rs1432142412 | 114 | R>Q | No |
TOPMed gnomAD |
|
rs1267379170 | 114 | R>W | No |
TOPMed gnomAD |
|
TCGA novel | 115 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1174179806 | 116 | W>C | No |
TOPMed gnomAD |
|
rs1419492207 | 118 | Q>* | No | TOPMed | |
rs1595498737 | 119 | V>G | No | Ensembl | |
COSM4148746 rs1566897919 |
119 | V>L | thyroid [Cosmic] | No |
cosmic curated Ensembl |
rs2055656974 | 120 | E>K | No | Ensembl | |
rs768263736 | 121 | D>N | No |
ExAC gnomAD |
|
rs2055657082 | 123 | G>R | No |
TOPMed gnomAD |
|
TCGA novel | 123 | G>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs776196995 | 125 | T>N | No |
ExAC gnomAD |
|
rs1235795747 | 126 | E>K | No | gnomAD | |
rs1438820026 | 127 | I>M | No | gnomAD | |
rs1294395629 | 128 | S>P | No | gnomAD | |
rs748497162 | 129 | Q>H | No |
ExAC TOPMed gnomAD |
|
rs867397137 | 129 | Q>K | No | TOPMed | |
COSM961460 | 129 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1461892546 | 130 | P>L | No |
TOPMed gnomAD |
|
rs1290735779 | 132 | W>C | No | gnomAD | |
rs911381977 | 134 | T>K | No |
TOPMed gnomAD |
|
rs911381977 | 134 | T>M | No |
TOPMed gnomAD |
|
TCGA novel | 136 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2055670398 | 137 | G>D | No | Ensembl | |
rs775719687 | 146 | K>E | No |
ExAC gnomAD |
|
TCGA novel | 147 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs201880670 | 148 | L>R | No | TOPMed | |
rs1449401455 | 149 | A>S | No |
TOPMed gnomAD |
|
rs991767918 | 149 | A>V | No |
TOPMed gnomAD |
|
rs1243297611 | 150 | V>L | No | gnomAD | |
rs1033022101 | 151 | P>L | No | TOPMed | |
rs2055670991 | 152 | P>S | No | Ensembl | |
rs138698563 | 153 | N>I | No |
ESP ExAC TOPMed gnomAD |
|
rs138698563 | 153 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
rs762784884 | 155 | P>L | No |
ExAC gnomAD |
|
rs915568452 | 155 | P>S | No | Ensembl | |
COSM3816016 | 156 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1270285888 | 158 | L>Q | No |
TOPMed gnomAD |
|
rs766257348 | 159 | S>T | No |
ExAC TOPMed gnomAD |
|
rs746651422 | 162 | A>V | No | Ensembl | |
rs752314054 | 163 | V>G | No |
ExAC gnomAD |
|
rs1391089007 | 163 | V>L | No | gnomAD | |
rs1427395805 | 164 | G>D | No | gnomAD | |
rs755721244 | 164 | G>S | No |
ExAC gnomAD |
|
rs2055671874 | 165 | P>S | No | gnomAD | |
rs749651412 | 167 | E>D | No |
ExAC TOPMed gnomAD |
|
rs1334144744 | 167 | E>Q | No |
TOPMed gnomAD |
|
rs1437813237 | 168 | P>H | No | gnomAD | |
rs978506276 | 169 | V>A | No | Ensembl | |
rs779493208 | 170 | T>N | No |
ExAC gnomAD |
|
rs373865735 | 171 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
rs772690112 | 172 | V>F | No |
ExAC TOPMed gnomAD |
|
rs1346531437 | 173 | W>* | No | gnomAD | |
rs1595499345 | 174 | W>G | No | Ensembl | |
rs760849192 | 175 | R>K | No |
ExAC TOPMed gnomAD |
|
rs760849192 | 175 | R>T | No |
ExAC TOPMed gnomAD |
|
rs768736999 | 176 | G>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs768736999 | 176 | G>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1321141455 | 177 | T>A | No | gnomAD | |
rs2055672838 | 178 | T>A | No |
TOPMed gnomAD |
|
rs142723750 | 178 | T>K | No |
ESP ExAC TOPMed gnomAD |
|
rs142723750 | 178 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
rs142723750 | 178 | T>R | No |
ESP ExAC TOPMed gnomAD |
|
rs1446599056 | 180 | I>F | No | gnomAD | |
rs1595499356 | 181 | G>A | No | Ensembl | |
rs751440947 | 181 | G>R | No |
ExAC TOPMed gnomAD |
|
COSM4940446 | 182 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1478421391 | 182 | G>R | No | gnomAD | |
rs752121582 COSM4968053 |
184 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs890315808 | 185 | P>L | No | Ensembl | |
COSM3501078 | 185 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 186 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM3501080 | 187 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2140818537 | 187 | P>S | No | Ensembl | |
rs763793825 | 188 | S>C | No |
ExAC gnomAD |
|
rs753543048 | 189 | V>I | No |
ExAC gnomAD |
|
rs1436655760 | 192 | V>A | No | gnomAD | |
rs372252105 | 192 | V>I | No |
ESP TOPMed gnomAD |
|
rs372252105 | 192 | V>L | No |
ESP TOPMed gnomAD |
|
rs2055673879 | 193 | T>I | No | Ensembl | |
rs781235941 | 195 | V>L | No |
ExAC gnomAD |
|
rs748295108 | 197 | Q>R | No |
ExAC gnomAD |
|
rs138227584 | 200 | M>I | No |
ESP ExAC TOPMed gnomAD |
|
rs769976823 | 200 | M>L | No |
ExAC gnomAD |
|
rs375507876 | 200 | M>R | No |
ESP TOPMed gnomAD |
|
rs375507876 | 200 | M>T | No |
ESP TOPMed gnomAD |
|
rs769976823 | 200 | M>V | No |
ExAC gnomAD |
|
rs2055691744 | 203 | C>S | No | TOPMed | |
rs745604133 | 204 | E>D | No |
ExAC TOPMed gnomAD |
|
rs2140820578 | 204 | E>K | No | 1000Genomes | |
rs369311519 | 206 | H>D | No |
ESP ExAC gnomAD |
|
rs775230837 | 206 | H>Q | No |
ExAC gnomAD |
|
rs76520897 | 208 | L>P | No | 1000Genomes | |
rs1308550840 | 208 | L>V | No | gnomAD | |
COSM700662 rs1395618928 |
210 | G>D | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
TCGA novel | 212 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs760643930 | 213 | S>F | No |
ExAC TOPMed gnomAD |
|
rs2055692147 | 214 | S>F | No | TOPMed | |
rs764190736 | 215 | R>C | No |
ExAC gnomAD |
|
rs1340865770 COSM961464 |
215 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs761457140 | 216 | T>A | No |
ExAC TOPMed gnomAD |
|
rs761457140 | 216 | T>P | No |
ExAC TOPMed gnomAD |
|
rs1197606930 | 218 | T>S | No | TOPMed | |
rs557270589 | 219 | V>I | No |
1000Genomes ExAC gnomAD |
|
rs1229301865 | 221 | L>I | No | gnomAD | |
rs2055692536 | 222 | Q>H | No | Ensembl | |
rs750120069 | 222 | Q>R | No |
ExAC gnomAD |
|
rs2055704046 | 227 | A>T | No | TOPMed | |
rs1345356986 | 228 | P>L | No | gnomAD | |
rs1222252671 | 229 | F>L | No | gnomAD | |
rs2140821954 | 230 | N>H | No | Ensembl | |
rs2055704224 | 232 | T>S | No | Ensembl | |
rs759946317 | 233 | V>M | No |
ExAC TOPMed gnomAD |
|
rs1369954740 | 235 | K>E | No | TOPMed | |
COSM6077188 | 235 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2055704523 | 239 | S>C | No | Ensembl | |
rs753238472 | 239 | S>N | No |
ExAC gnomAD |
|
rs756123306 | 239 | S>R | No |
ExAC gnomAD |
|
COSM700660 | 240 | N>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs376761841 | 240 | N>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs150579508 | 241 | A>T | No |
ESP TOPMed gnomAD |
|
rs757466734 | 242 | S>G | No |
ExAC gnomAD |
|
rs779051778 | 242 | S>R | No |
ExAC TOPMed gnomAD |
|
rs1158637569 | 244 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1158637569 | 244 | A>V | No |
TOPMed gnomAD |
|
rs746749128 | 246 | M>L | No |
ExAC gnomAD |
|
rs746749128 | 246 | M>V | No |
ExAC gnomAD |
|
TCGA novel | 247 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs985007566 | 248 | G>D | No | Ensembl | |
rs1459642252 | 248 | G>S | No |
TOPMed gnomAD |
|
rs776316958 | 250 | D>E | No |
ExAC gnomAD |
|
rs781207793 | 250 | D>N | No |
ExAC TOPMed gnomAD |
|
rs141641556 | 251 | G>S | No |
1000Genomes ESP ExAC gnomAD |
|
rs748790465 | 252 | R>* | No |
ExAC TOPMed gnomAD |
|
rs770597987 | 252 | R>Q | No |
ExAC gnomAD |
|
rs964010961 | 253 | A>G | No | TOPMed | |
TCGA novel | 256 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1314697087 | 256 | Q>K | No | gnomAD | |
TCGA novel | 256 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs759858563 | 256 | Q>R | No |
ExAC gnomAD |
|
rs1481435193 | 257 | S>F | No |
TOPMed gnomAD |
|
rs2055705595 | 257 | S>T | No | gnomAD | |
rs767877097 | 259 | T>A | No | ExAC | |
rs1490055083 | 260 | V>F | No | gnomAD | |
rs1220151252 | 260 | V>G | No | gnomAD | |
COSM700658 | 260 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1339538204 | 265 | A>D | No |
TOPMed gnomAD |
|
rs1339538204 | 265 | A>G | No |
TOPMed gnomAD |
|
rs146345601 | 266 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
rs766749928 | 266 | P>R | No |
ExAC TOPMed gnomAD |
|
rs146345601 | 266 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
COSM4054529 | 269 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1204002186 | 269 | W>R | No | gnomAD | |
rs927961460 | 270 | E>D | No | Ensembl | |
rs2055737082 | 271 | V>A | No | gnomAD | |
rs1466867300 | 271 | V>F | No | TOPMed | |
rs1466867300 | 271 | V>I | No | TOPMed | |
rs1190780433 | 272 | L>P | No | gnomAD | |
rs1350588468 | 273 | A>D | No | gnomAD | |
rs1350588468 | 273 | A>V | No | gnomAD | |
rs1595501555 | 274 | V>G | No | Ensembl | |
rs556634645 | 274 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs556634645 | 274 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2055737407 | 275 | V>L | No | Ensembl | |
rs756736594 | 276 | V>I | No |
ExAC gnomAD |
|
rs139608785 | 277 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs778386853 | 277 | P>S | No |
ExAC TOPMed gnomAD |
|
rs778386853 | 277 | P>T | No |
ExAC TOPMed gnomAD |
|
rs771688196 | 278 | V>M | No |
ExAC gnomAD |
|
rs2055737856 | 279 | P>L | No | TOPMed | |
rs2055737767 | 279 | P>S | No | TOPMed | |
rs1319921722 | 280 | P>R | No | gnomAD | |
rs1326506868 | 282 | T>N | No | gnomAD | |
rs1595501572 | 282 | T>P | No | Ensembl | |
rs2055738121 | 283 | C>S | No | Ensembl | |
rs2055738177 | 283 | C>W | No | TOPMed | |
COSM4054531 | 283 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs376239856 | 286 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs779699894 | 286 | R>W | No |
ExAC gnomAD |
|
rs1347253295 | 287 | D>G | No | gnomAD | |
rs1224083793 | 288 | L>R | No | gnomAD | |
rs777138819 | 291 | A>T | No |
ExAC gnomAD |
|
rs1446651175 | 295 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1595501599 | 296 | L>F | No | TOPMed | |
rs1191029207 | 297 | R>K | No | gnomAD | |
rs770490145 | 299 | R>C | No |
ExAC TOPMed gnomAD |
|
rs946916314 COSM433828 |
299 | R>H | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs770490145 | 299 | R>S | No |
ExAC TOPMed gnomAD |
|
rs1481020445 | 301 | A>S | No | gnomAD | |
COSM3501084 | 302 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs200163412 | 302 | N>S | No |
1000Genomes ExAC gnomAD |
|
rs200163412 | 302 | N>T | No |
1000Genomes ExAC gnomAD |
|
rs2055738929 | 304 | L>W | No | gnomAD | |
rs763176900 | 306 | P>L | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 306 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2055739004 | 307 | S>C | No | Ensembl | |
COSM5936168 | 307 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs267604188 | 308 | P>L | No | gnomAD | |
rs1399761189 | 309 | Y>C | No | gnomAD | |
COSM459042 | 311 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1315567001 | 313 | V>A | No | gnomAD | |
rs144221692 | 314 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 316 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1343409274 | 318 | K>M | No |
TOPMed gnomAD |
|
rs1343409274 | 318 | K>R | No |
TOPMed gnomAD |
|
rs1595501637 | 319 | G>C | No | Ensembl | |
rs1240849262 | 319 | G>D | No | gnomAD | |
rs1176391421 | 321 | A>D | No | gnomAD | |
rs761616237 | 322 | P>S | No | ExAC | |
rs2055748621 | 323 | A>V | No | Ensembl | |
rs1818858178 | 324 | S>N | No |
TOPMed gnomAD |
|
rs757843925 | 325 | A>G | No |
ExAC gnomAD |
|
rs750363957 | 325 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs757843925 | 325 | A>V | No |
ExAC gnomAD |
|
rs2140826081 | 327 | Q>K | No | Ensembl | |
rs1366225289 | 327 | Q>R | No |
TOPMed gnomAD |
|
rs2140826090 | 328 | N>T | No | Ensembl | |
rs751147180 | 330 | H>Q | No |
ExAC gnomAD |
|
COSM1129212 | 331 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs948036958 | 332 | I>L | No | TOPMed | |
rs948036958 | 332 | I>V | No | TOPMed | |
rs140010890 | 333 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1338476882 COSM2149877 |
333 | R>H | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs140010890 | 333 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1809940297 | 336 | S>L | No | Ensembl | |
rs1820540940 | 338 | L>V | No | Ensembl | |
rs2140826150 | 339 | I>L | No | Ensembl | |
rs2140826155 | 340 | L>W | No | Ensembl | |
rs1005138923 | 341 | E>G | No | TOPMed | |
rs2140826169 | 342 | W>G | No | Ensembl | |
rs142466939 | 343 | E>* | No |
ESP ExAC TOPMed gnomAD |
|
rs142466939 | 343 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 344 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs771626601 | 345 | V>M | No |
ExAC gnomAD |
|
rs12148316 VAR_045887 |
346 | I>N | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs772153769 | 347 | P>T | No |
ExAC gnomAD |
|
rs762873424 | 348 | E>D | No |
ExAC TOPMed gnomAD |
|
COSM1372797 rs773047697 |
348 | E>K | large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs754539745 | 349 | A>D | No |
ExAC gnomAD |
|
rs751012157 | 349 | A>S | No |
ExAC gnomAD |
|
rs751012157 | 349 | A>T | No |
ExAC gnomAD |
|
rs140553891 | 351 | L>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM6077186 | 352 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs527331118 | 352 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs527331118 | 352 | E>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs778273799 | 353 | G>A | No |
ExAC gnomAD |
|
rs150035019 | 353 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
rs150035019 | 353 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
rs2055750643 | 354 | P>L | No | TOPMed | |
rs1285101524 | 354 | P>S | No | Ensembl | |
rs1469465274 | 355 | L>R | No | gnomAD | |
TCGA novel | 355 | L>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1364169481 | 357 | P>L | No | gnomAD | |
rs2140826299 | 359 | K>E | No | Ensembl | |
rs2055750933 | 361 | S>F | No | Ensembl | |
rs772195909 | 362 | W>C | No |
ExAC gnomAD |
|
rs775515662 | 363 | V>I | No | ExAC | |
rs747217557 | 364 | Q>* | No |
ExAC gnomAD |
|
rs768932378 | 366 | N>S | No |
ExAC gnomAD |
|
rs1202631317 | 369 | Q>H | No |
TOPMed gnomAD |
|
rs2055758493 | 370 | D>H | No | TOPMed | |
COSM1372799 | 371 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2055758572 | 372 | L>V | No | Ensembl | |
rs2055758627 | 373 | T>A | No | TOPMed | |
rs1184962168 | 374 | V>A | No | gnomAD | |
rs779217936 | 374 | V>L | No |
ExAC gnomAD |
|
rs758885127 | 380 | N>S | No |
ExAC TOPMed gnomAD |
|
rs1418927487 | 380 | N>Y | No |
TOPMed gnomAD |
|
rs780101888 | 381 | L>F | No |
ExAC TOPMed gnomAD |
|
rs1378545647 | 381 | L>V | No | gnomAD | |
rs747131595 | 382 | T>I | No |
ExAC gnomAD |
|
rs1447893969 | 383 | G>V | No | TOPMed | |
rs1286997233 | 385 | D>Y | No | TOPMed | |
rs768844457 | 386 | P>R | No |
ExAC gnomAD |
|
TCGA novel | 386 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1300215990 | 388 | K>N | No | gnomAD | |
rs2055759295 | 389 | D>N | No |
TOPMed gnomAD |
|
rs1344903441 | 390 | L>M | No | TOPMed | |
rs749043399 | 391 | I>M | No |
ExAC TOPMed gnomAD |
|
rs1374575253 | 391 | I>T | No | gnomAD | |
rs375597382 COSM1516970 |
392 | V>I | lung Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs375597382 | 392 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
rs576219159 | 393 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs200610593 | 393 | R>H | No |
ExAC TOPMed gnomAD |
|
rs200610593 | 393 | R>P | No |
ExAC TOPMed gnomAD |
|
rs2140827188 | 394 | V>A | No | Ensembl | |
COSM4611729 | 395 | C>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs201575640 | 396 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
rs201575640 | 396 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
rs1358580109 | 398 | N>D | No | gnomAD | |
rs763795898 | 398 | N>S | No |
ExAC TOPMed gnomAD |
|
rs1176818234 | 399 | A>E | No | gnomAD | |
rs199712738 | 399 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs555742720 | 400 | V>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1164247938 | 402 | C>R | No | gnomAD | |
rs2055760411 | 403 | G>R | No |
TOPMed gnomAD |
|
rs750818100 | 404 | P>L | No |
ExAC TOPMed gnomAD |
|
rs750818100 | 404 | P>R | No |
ExAC TOPMed gnomAD |
|
rs1404076662 | 405 | W>* | No | gnomAD | |
rs1641244116 | 405 | W>C | No | TOPMed | |
rs1404076662 | 405 | W>L | No | gnomAD | |
COSM961468 | 407 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1286732854 | 409 | L>V | No | gnomAD | |
rs1566901078 | 410 | V>A | No | Ensembl | |
rs1355478413 | 411 | V>L | No | gnomAD | |
COSM4836621 | 412 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1329746765 | 413 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1595502504 | 414 | H>L | No | TOPMed | |
rs1595502504 | 414 | H>R | No | TOPMed | |
rs780587310 | 415 | D>A | No |
ExAC TOPMed gnomAD |
|
rs1595502513 | 415 | D>E | No | Ensembl | |
rs780587310 | 415 | D>G | No |
ExAC TOPMed gnomAD |
|
rs139291400 | 416 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
rs375955494 | 416 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
rs139291400 | 416 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
rs952862555 | 418 | G>D | No |
TOPMed gnomAD |
|
rs1192174017 | 420 | Q>* | No | gnomAD | |
rs1192174017 | 420 | Q>E | No | gnomAD | |
rs1176504410 | 421 | G>R | No | TOPMed | |
rs755000856 | 422 | P>L | No |
ExAC TOPMed gnomAD |
|
rs755000856 | 422 | P>R | No |
ExAC TOPMed gnomAD |
|
rs1481001015 | 423 | P>A | No | gnomAD | |
rs2055774479 | 425 | S>N | No | gnomAD | |
rs1167709203 | 426 | R>C | No |
TOPMed gnomAD |
|
rs767559977 | 426 | R>H | No |
ExAC TOPMed gnomAD |
|
rs752757135 | 427 | T>I | No |
ExAC TOPMed gnomAD |
|
rs1319659344 | 429 | W>S | No | gnomAD | |
rs745614743 | 430 | V>G | No |
ExAC TOPMed gnomAD |
|
rs1345317920 | 430 | V>L | No | gnomAD | |
rs2055774934 | 431 | P>L | No | Ensembl | |
rs1223836656 | 435 | G>S | No | gnomAD | |
rs746924422 | 437 | L>P | No |
ExAC gnomAD |
|
rs747670317 | 440 | L>V | No |
ExAC gnomAD |
|
rs772744376 | 442 | T>M | No |
ExAC TOPMed gnomAD |
|
rs2055775392 | 443 | A>T | No | TOPMed | |
rs2055775476 | 447 | A>G | No | gnomAD | |
rs774745326 | 452 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs774745326 | 452 | R>G | No |
ExAC TOPMed gnomAD |
|
rs760003502 COSM1372801 |
452 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 453 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2055775844 | 453 | K>T | No | Ensembl | |
COSM1269578 rs752804702 |
455 | R>Q | oesophagus [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs768075649 COSM961470 |
455 | R>W | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1368098397 | 456 | K>E | No |
TOPMed gnomAD |
|
rs2055776092 | 458 | T>A | No | Ensembl | |
rs146938698 | 458 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
rs757605126 | 459 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs754033586 | 459 | R>W | No |
ExAC TOPMed gnomAD |
|
rs1595503139 | 460 | F>V | No | Ensembl | |
rs966000000 | 462 | Q>R | No |
TOPMed gnomAD |
|
rs760763490 | 463 | A>D | No |
ExAC TOPMed gnomAD |
|
rs760763490 | 463 | A>G | No |
ExAC TOPMed gnomAD |
|
rs1219893912 | 463 | A>T | No | Ensembl | |
rs760763490 | 463 | A>V | No |
ExAC TOPMed gnomAD |
|
rs201443654 | 468 | M>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2055777891 | 469 | A>V | No | Ensembl | |
rs751342278 | 470 | R>G | No |
ExAC TOPMed gnomAD |
|
rs754825265 | 470 | R>P | No |
ExAC TOPMed gnomAD |
|
rs754825265 COSM1722897 |
470 | R>Q | NS Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs751342278 | 470 | R>W | No |
ExAC TOPMed gnomAD |
|
rs1018722890 | 472 | E>D | No |
TOPMed gnomAD |
|
rs2055778194 | 472 | E>K | No | gnomAD | |
rs781144553 | 473 | P>S | No |
ExAC TOPMed |
|
rs781144553 | 473 | P>T | No |
ExAC TOPMed |
|
rs1264265939 | 474 | A>D | No |
TOPMed gnomAD |
|
rs777115395 | 475 | V>F | No |
ExAC TOPMed gnomAD |
|
rs777115395 | 475 | V>I | No |
ExAC TOPMed gnomAD |
|
rs1366760097 | 476 | H>D | No | Ensembl | |
rs748861412 | 477 | F>C | No |
ExAC gnomAD |
|
rs770553953 | 477 | F>L | No |
ExAC gnomAD |
|
rs746161062 | 478 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs778546483 | 478 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs2055778686 | 479 | A>V | No | TOPMed | |
rs2055778732 | 480 | A>T | No | Ensembl | |
rs775975244 | 481 | R>G | No |
ExAC gnomAD |
|
rs372847154 | 481 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs775975244 | 481 | R>W | No |
ExAC gnomAD |
|
rs1476369168 | 482 | S>T | No | gnomAD | |
rs1177845917 | 483 | F>L | No |
TOPMed gnomAD |
|
rs952005828 | 484 | N>H | No | Ensembl | |
rs542281194 | 484 | N>S | No | 1000Genomes | |
rs776839937 | 485 | R>* | No |
ExAC TOPMed gnomAD |
|
rs776839937 | 485 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs765489428 | 485 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs1339017154 | 486 | E>A | No | gnomAD | |
rs141282452 | 487 | R>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1395470794 | 487 | R>S | No | gnomAD | |
rs1228822418 | 489 | E>A | No | gnomAD | |
rs146237670 | 489 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
rs752575650 | 490 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs755999280 | 490 | R>H | No |
ExAC TOPMed gnomAD |
|
rs752575650 | 490 | R>S | No |
ExAC TOPMed gnomAD |
|
rs528638844 | 492 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1199348339 | 493 | A>G | No | gnomAD | |
rs1044571703 | 494 | T>A | No | Ensembl | |
rs1283028941 | 494 | T>I | No | TOPMed | |
rs1466183303 | 496 | D>N | No | Ensembl | |
rs2140829545 | 497 | S>C | No | Ensembl | |
rs1174276466 | 499 | G>S | No | gnomAD | |
rs2055783213 | 500 | I>V | No | gnomAD | |
rs2055783284 | 501 | S>N | No | Ensembl | |
rs181624470 | 501 | S>R | No |
1000Genomes ExAC gnomAD |
|
rs1158125835 | 502 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs142874537 | 502 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA gnomAD |
rs1307322786 | 507 | K>N | No | Ensembl | |
rs1294465408 | 511 | V>A | No | gnomAD | |
rs185795424 | 511 | V>M | No |
1000Genomes gnomAD |
|
rs2055783606 | 512 | L>F | No | Ensembl | |
rs1385870951 | 514 | P>S | No |
TOPMed gnomAD |
|
rs1336171752 | 516 | Q>* | No | TOPMed | |
rs1318371926 | 516 | Q>H | No |
TOPMed gnomAD |
|
rs139698238 | 517 | Q>E | No |
ESP ExAC TOPMed gnomAD |
|
rs1296630228 | 518 | F>Y | No | Ensembl | |
rs1461644141 | 519 | T>S | No | TOPMed | |
rs755401207 | 522 | R>G | No |
ExAC TOPMed |
|
rs781746512 COSM1734460 |
522 | R>Q | pancreas [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs755401207 | 522 | R>W | No |
ExAC TOPMed |
|
rs944337043 | 523 | M>I | No |
TOPMed gnomAD |
|
rs2055784112 | 523 | M>T | No |
TOPMed gnomAD |
|
rs1224698367 | 523 | M>V | No | gnomAD | |
rs2055784177 | 525 | G>S | No | TOPMed | |
rs2055784205 | 526 | K>E | No | TOPMed | |
rs1566902022 | 527 | G>R | No | Ensembl | |
rs1436858116 | 528 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs776399666 | 528 | E>D | No |
ExAC gnomAD |
|
rs769654716 | 530 | G>A | No |
ExAC gnomAD |
|
rs537077384 | 532 | V>M | No |
TOPMed gnomAD |
|
rs773234960 | 533 | R>Q | No |
ExAC gnomAD |
|
rs909036764 | 533 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
rs2055789418 | 535 | A>G | No | TOPMed | |
rs2055789378 | 535 | A>T | No | TOPMed | |
rs762320796 | 537 | L>V | No |
ExAC gnomAD |
|
TCGA novel | 540 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1566902237 | 540 | E>Q | No | Ensembl | |
rs2140830209 | 540 | E>V | No | Ensembl | |
rs2055789634 | 541 | D>N | No | TOPMed | |
rs2055789683 | 541 | D>V | No | Ensembl | |
rs17857363 VAR_045888 |
542 | G>S | No |
UniProt Ensembl dbSNP |
|
rs759257990 | 544 | F>S | No |
ExAC gnomAD |
|
rs36023830 | 545 | V>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2055789974 | 546 | K>R | No | Ensembl | |
rs200205040 | 549 | V>G | No |
ExAC gnomAD |
|
rs1482550882 | 549 | V>L | No | gnomAD | |
rs76662072 | 550 | K>E | No |
ExAC gnomAD |
|
rs1477734085 | 550 | K>N | No | gnomAD | |
rs2055790321 | 551 | M>I | No |
TOPMed gnomAD |
|
rs778097398 | 551 | M>L | No |
ExAC gnomAD |
|
COSM4893033 | 551 | M>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs761068185 | 554 | A>G | No |
ExAC TOPMed gnomAD |
|
rs754388681 | 554 | A>T | No |
ExAC TOPMed gnomAD |
|
rs754226040 | 556 | I>N | No |
ExAC TOPMed gnomAD |
|
rs764493866 | 556 | I>V | No |
ExAC TOPMed gnomAD |
|
rs1160241437 | 560 | S>N | No |
TOPMed gnomAD |
|
rs779303794 | 561 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1452218473 | 562 | I>T | No |
TOPMed gnomAD |
|
rs750439717 | 562 | I>V | No |
ExAC gnomAD |
|
TCGA novel | 563 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 564 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1380433272 | 565 | F>I | No | gnomAD | |
COSM3501088 | 566 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs200699459 | 567 | R>G | No |
1000Genomes gnomAD |
|
TCGA novel | 567 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2140830950 | 568 | E>K | No | Ensembl | |
rs780203368 | 569 | A>T | No |
ExAC gnomAD |
|
rs111749024 | 569 | A>V | No |
ExAC gnomAD |
|
rs768802416 | 571 | C>F | No |
ExAC TOPMed gnomAD |
|
rs768802416 | 571 | C>S | No |
ExAC TOPMed gnomAD |
|
rs768802416 | 571 | C>Y | No |
ExAC TOPMed gnomAD |
|
rs1329525787 | 572 | M>L | No | gnomAD | |
rs2055797291 | 573 | K>E | No |
TOPMed gnomAD |
|
rs1566902521 | 575 | F>C | No | Ensembl | |
rs1001509759 | 575 | F>V | No | Ensembl | |
rs749095688 | 576 | D>A | No |
ExAC TOPMed gnomAD |
|
rs749095688 | 576 | D>G | No |
ExAC TOPMed gnomAD |
|
rs1310033795 | 578 | P>L | No |
TOPMed gnomAD |
|
rs1189171188 | 578 | P>T | No |
TOPMed gnomAD |
|
rs1376334073 | 579 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
COSM130025 rs774158976 |
580 | V>L | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs774158976 | 580 | V>M | No |
ExAC TOPMed gnomAD |
|
rs1288192537 | 582 | K>N | No |
TOPMed gnomAD |
|
rs745327921 | 582 | K>R | No |
ExAC TOPMed gnomAD |
|
rs745327921 | 582 | K>T | No |
ExAC TOPMed gnomAD |
|
rs2055798025 | 584 | V>L | No | Ensembl | |
rs762188957 | 586 | V>I | No |
ExAC gnomAD |
|
rs762188957 | 586 | V>L | No |
ExAC gnomAD |
|
rs547884542 | 589 | R>Q | No |
ExAC gnomAD |
|
rs765497032 | 589 | R>W | No |
ExAC TOPMed gnomAD |
|
rs2055808605 COSM4054537 |
590 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic gnomAD |
rs2055808605 | 590 | S>T | No | gnomAD | |
rs766928213 | 591 | R>S | No |
ExAC gnomAD |
|
rs1342953036 | 594 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs148583498 | 595 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs148583498 | 595 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
rs1278003650 COSM4738541 |
595 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs148583498 | 595 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
COSM4054539 | 596 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs752881759 | 597 | P>R | No |
1000Genomes ExAC gnomAD |
|
rs1224854941 | 597 | P>S | No | gnomAD | |
rs889310882 | 598 | I>F | No |
TOPMed gnomAD |
|
COSM1231479 rs2055809310 |
600 | M>I | large_intestine [Cosmic] | No |
cosmic curated TOPMed |
rs778817521 | 600 | M>T | No |
ExAC gnomAD |
|
rs1396851006 | 600 | M>V | No | gnomAD | |
rs2055809350 | 601 | V>A | No | gnomAD | |
rs1430940357 | 603 | L>F | No | Ensembl | |
rs745719492 | 604 | P>L | No |
ExAC gnomAD |
|
rs1489248093 | 604 | P>T | No |
TOPMed gnomAD |
|
rs1472600415 | 606 | M>L | No | TOPMed | |
rs1262265062 | 607 | K>T | No | gnomAD | |
rs2066820336 | 608 | H>R | No | TOPMed | |
rs1378264726 | 609 | G>E | No | gnomAD | |
rs746491882 | 610 | D>E | No |
ExAC gnomAD |
|
rs768074892 | 612 | H>R | No |
ExAC gnomAD |
|
rs1420866086 | 613 | A>T | No | gnomAD | |
rs773550948 | 617 | A>D | No |
ExAC TOPMed gnomAD |
|
rs769504685 | 617 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs773550948 | 617 | A>V | No |
ExAC TOPMed gnomAD |
|
rs763319872 | 618 | S>C | No |
ExAC gnomAD |
|
rs763319872 | 618 | S>F | No |
ExAC gnomAD |
|
rs202044292 | 619 | R>Q | No | 1000Genomes | |
rs774870018 | 619 | R>W | No |
ExAC TOPMed gnomAD |
|
rs767469278 | 620 | I>M | No |
ExAC TOPMed gnomAD |
|
rs142941924 | 620 | I>N | No |
1000Genomes ESP ExAC gnomAD |
|
rs142941924 | 620 | I>T | No |
1000Genomes ESP ExAC gnomAD |
|
rs898087666 | 621 | G>V | No | Ensembl | |
rs752859843 | 622 | E>D | No |
ExAC gnomAD |
|
rs374825675 | 623 | N>D | No |
ESP ExAC TOPMed gnomAD |
|
rs764427878 | 623 | N>S | No |
ExAC gnomAD |
|
rs544789572 | 624 | P>L | No |
1000Genomes ExAC gnomAD |
|
rs1231238709 | 626 | N>K | No |
TOPMed gnomAD |
|
rs756938451 | 627 | L>V | No |
ExAC TOPMed gnomAD |
|
rs779138128 | 628 | P>L | No |
ExAC gnomAD |
|
rs1458405894 | 628 | P>S | No |
TOPMed gnomAD |
|
rs746299555 | 629 | L>F | No |
ExAC TOPMed gnomAD |
|
rs2055816840 | 629 | L>P | No | TOPMed | |
rs746299555 | 629 | L>V | No |
ExAC TOPMed gnomAD |
|
rs958593554 | 630 | Q>* | No | TOPMed | |
rs2055816935 | 630 | Q>R | No | TOPMed | |
rs772395562 | 631 | T>A | No |
ExAC gnomAD |
|
rs1566903158 | 632 | L>R | No | Ensembl | |
rs1255890266 | 632 | L>V | No | gnomAD | |
rs747041146 | 633 | I>V | No |
ExAC TOPMed gnomAD |
|
rs776891442 | 634 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs771077428 | 634 | R>W | No |
ExAC TOPMed gnomAD |
|
COSM961478 | 635 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs558416749 | 636 | M>I | No |
1000Genomes ExAC gnomAD |
|
rs762122795 | 636 | M>L | No |
ExAC gnomAD |
|
rs1169111499 | 636 | M>T | No | gnomAD | |
rs762122795 | 636 | M>V | No |
ExAC gnomAD |
|
rs2055817526 | 638 | D>G | No |
TOPMed gnomAD |
|
rs376598790 | 641 | C>* | No |
ESP ExAC TOPMed gnomAD |
|
rs1300887761 | 641 | C>R | No | TOPMed | |
rs1303295687 | 641 | C>Y | No | gnomAD | |
rs759379074 | 642 | G>S | No |
ExAC gnomAD |
|
rs2055817832 | 644 | E>D | No | Ensembl | |
COSM1301111 | 648 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs147714132 | 649 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
rs147714132 | 649 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1214244862 | 649 | R>W | No | gnomAD | |
rs1389092637 | 650 | N>D | No | TOPMed | |
rs763560672 | 650 | N>K | No |
ExAC gnomAD |
|
rs768534829 | 653 | H>Y | No | Ensembl | |
rs1237344380 | 654 | R>* | No | gnomAD | |
rs756887230 | 654 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs568937682 | 655 | D>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2055818485 | 659 | R>Q | No | TOPMed | |
rs910598198 COSM1608351 |
659 | R>W | liver [Cosmic] | No |
cosmic curated TOPMed gnomAD |
rs1260031749 | 661 | C>R | No | Ensembl | |
rs2055818636 | 661 | C>W | No | TOPMed | |
rs746180755 | 661 | C>Y | No |
ExAC gnomAD |
|
rs769937639 | 662 | M>I | No |
ExAC TOPMed gnomAD |
|
rs758817180 | 662 | M>L | No |
ExAC TOPMed gnomAD |
|
rs368669643 | 662 | M>T | No |
1000Genomes ESP ExAC gnomAD |
|
rs758817180 | 662 | M>V | No |
ExAC TOPMed gnomAD |
|
rs777763095 | 666 | D>E | No |
ExAC TOPMed gnomAD |
|
RCV000948427 rs62001448 |
669 | V>L | No |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs62001448 | 669 | V>M | No |
1000Genomes ExAC gnomAD |
|
rs775248413 | 670 | C>F | No |
ExAC gnomAD |
|
rs775248413 | 670 | C>Y | No |
ExAC gnomAD |
|
rs760473714 | 671 | V>M | No |
ExAC TOPMed gnomAD |
|
rs954001384 | 673 | D>H | No | Ensembl | |
rs1251819586 | 675 | G>E | No | gnomAD | |
RCV000965972 COSM99042 rs116540200 |
675 | G>R | large_intestine stomach [Cosmic] | No |
cosmic curated ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
rs776195339 | 678 | R>P | No |
TOPMed gnomAD |
|
rs776195339 | 678 | R>Q | No |
TOPMed gnomAD |
|
rs1179976971 | 678 | R>W | No | gnomAD | |
rs1415748063 | 679 | K>N | No | gnomAD | |
rs1156572818 | 679 | K>Q | No | gnomAD | |
rs764777139 | 682 | S>G | No |
ExAC gnomAD |
|
rs865920778 | 682 | S>N | No | TOPMed | |
rs762654793 | 684 | D>E | No |
ExAC gnomAD |
|
rs749969459 | 684 | D>N | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 684 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs766144858 | 686 | Y>C | No |
ExAC gnomAD |
|
rs377334532 | 687 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
rs370573528 | 687 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
rs140748026 | 690 | C>R | No |
ESP ExAC TOPMed gnomAD |
|
rs529826589 | 692 | S>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs529826589 | 692 | S>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs753232983 | 692 | S>T | No |
ExAC gnomAD |
|
rs2055823227 | 694 | L>V | No | Ensembl | |
rs777901246 | 695 | P>A | No |
ExAC gnomAD |
|
rs777901246 | 695 | P>S | No |
ExAC gnomAD |
|
rs2055823395 | 698 | W>* | No | Ensembl | |
rs1595505155 | 700 | A>G | No | Ensembl | |
rs749382156 | 700 | A>T | No |
ExAC TOPMed gnomAD |
|
rs1595505165 | 701 | L>Q | No | Ensembl | |
rs1595505165 | 701 | L>R | No | Ensembl | |
rs1241100163 | 702 | E>K | No | gnomAD | |
rs779110328 | 703 | S>G | No |
ExAC gnomAD |
|
rs2055823950 | 705 | A>D | No | Ensembl | |
rs2055823902 | 705 | A>P | No | Ensembl | |
rs768420836 | 706 | D>N | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 707 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2055824137 | 707 | N>Y | No | Ensembl | |
rs1389938260 | 708 | L>V | No | gnomAD | |
rs1372499537 | 709 | Y>* | No | TOPMed | |
rs1440951799 | 709 | Y>S | No |
TOPMed gnomAD |
|
rs1390153021 | 710 | T>A | No | gnomAD | |
rs1456366732 | 711 | V>M | No |
TOPMed gnomAD |
|
rs776454623 | 714 | D>E | No |
ExAC TOPMed gnomAD |
|
rs1284991927 | 714 | D>G | No | gnomAD | |
rs2055824598 | 715 | V>M | No | TOPMed | |
rs998399676 | 718 | F>L | No |
TOPMed gnomAD |
|
rs773056620 | 718 | F>L | No |
ExAC TOPMed gnomAD |
|
rs2055827896 | 719 | G>E | No | TOPMed | |
COSM4054543 rs748781112 |
719 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs770541184 | 720 | V>L | No |
ExAC gnomAD |
|
rs767333237 | 722 | M>I | No | ExAC | |
rs759257948 | 722 | M>L | No |
ExAC gnomAD |
|
rs759257948 | 722 | M>V | No |
ExAC gnomAD |
|
rs138665905 | 723 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD |
COSM700642 | 723 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM700646 | 723 | W>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2055828212 | 725 | I>M | No | TOPMed | |
rs775862633 | 726 | M>L | No |
ExAC gnomAD |
|
rs148896634 | 728 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs148896634 | 728 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs375666537 | 728 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1339699015 | 730 | Q>* | No | TOPMed | |
rs2055828559 | 730 | Q>R | No | gnomAD | |
rs1029516133 | 731 | T>A | No | Ensembl | |
rs2055828687 | 731 | T>M | No |
TOPMed gnomAD |
|
rs1566903626 | 732 | P>L | No | Ensembl | |
rs1383760794 | 735 | G>D | No | gnomAD | |
rs765301022 | 735 | G>S | No |
ExAC gnomAD |
|
rs200543540 | 736 | I>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1313794418 | 737 | E>G | No | TOPMed | |
rs758559401 | 737 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs780145584 | 739 | A>T | No |
ExAC TOPMed gnomAD |
|
rs747936946 | 739 | A>V | No |
ExAC gnomAD |
|
rs1239451154 | 740 | E>D | No | gnomAD | |
rs1369192069 | 740 | E>K | No | TOPMed | |
rs755886473 | 740 | E>V | No |
ExAC TOPMed gnomAD |
|
rs1458367778 | 742 | Y>D | No | gnomAD | |
rs1410641938 | 743 | N>S | No |
TOPMed gnomAD |
|
rs1014047944 | 744 | Y>F | No |
TOPMed gnomAD |
|
rs1014047944 | 744 | Y>S | No |
TOPMed gnomAD |
|
rs749206087 | 745 | L>F | No |
ExAC gnomAD |
|
rs2055829715 | 746 | I>T | No | 1000Genomes | |
rs1211915840 | 746 | I>V | No | gnomAD | |
rs2055829807 | 747 | G>A | No | Ensembl | |
rs1664006369 | 748 | G>R | No |
TOPMed gnomAD |
|
rs1595505442 | 749 | N>D | No | Ensembl | |
rs1191839667 | 749 | N>S | No | gnomAD | |
rs145529129 | 750 | R>C | No |
ESP ExAC gnomAD |
|
rs1158812678 | 750 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1158812678 | 750 | R>L | No | gnomAD | |
rs2055830284 | 751 | L>Q | No | Ensembl | |
rs1188322338 | 753 | Q>E | No | gnomAD | |
rs372061850 | 755 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1476160717 | 755 | P>T | No | TOPMed | |
COSM6077180 | 756 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1595505473 | 757 | C>G | No | Ensembl | |
rs2055830784 | 758 | M>I | No | Ensembl | |
rs539702700 | 758 | M>T | No |
1000Genomes ExAC |
|
rs1323346870 COSM961482 |
759 | E>D | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs763053284 | 760 | D>N | No |
ExAC gnomAD |
|
TCGA novel | 761 | V>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
rs766575850 | 761 | V>G | No |
ExAC gnomAD |
|
rs1391943496 | 761 | V>M | No | gnomAD | |
rs2140837643 | 765 | M>L | No | Ensembl | |
TCGA novel | 765 | M>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1174115709 | 765 | M>T | No | gnomAD | |
rs1394420858 | 766 | Y>C | No | gnomAD | |
rs766335605 | 767 | Q>E | No |
ExAC TOPMed gnomAD |
|
rs138043859 | 767 | Q>H | No |
ESP TOPMed gnomAD |
|
rs2140837661 | 768 | C>G | No | Ensembl | |
rs2055879710 | 769 | W>R | No |
TOPMed gnomAD |
|
rs2055879735 | 770 | S>R | No | Ensembl | |
COSM1372810 rs751725780 |
773 | P>S | large_intestine [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs751725780 | 773 | P>T | No |
ExAC gnomAD |
|
rs1345981237 | 775 | Q>E | No |
TOPMed gnomAD |
|
rs2055879897 | 776 | R>C | No | Ensembl | |
rs759660000 | 776 | R>H | No |
ExAC gnomAD |
|
COSM4054547 | 777 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1208156389 | 777 | P>L | No |
TOPMed gnomAD |
|
rs2055879967 | 777 | P>S | No | Ensembl | |
rs2055880057 | 778 | S>R | No | Ensembl | |
rs2140837690 | 778 | S>T | No | Ensembl | |
rs146093432 | 781 | C>S | No |
ESP ExAC TOPMed gnomAD |
|
rs146093432 | 781 | C>Y | No |
ESP ExAC TOPMed gnomAD |
|
COSM286221 rs1346366492 |
783 | R>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs757149099 | 783 | R>P | No |
ExAC TOPMed gnomAD |
|
rs757149099 | 783 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs778944294 | 784 | M>L | No |
ExAC gnomAD |
|
rs778944294 | 784 | M>V | No |
ExAC gnomAD |
|
rs758430219 COSM1749130 |
785 | E>K | urinary_tract [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs779418489 | 786 | L>M | No |
ExAC gnomAD |
|
rs746543017 | 786 | L>P | No |
ExAC gnomAD |
|
rs746543017 | 786 | L>Q | No |
ExAC gnomAD |
|
rs780857313 | 788 | N>T | No |
ExAC TOPMed gnomAD |
|
rs199635301 | 789 | I>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1402555750 | 790 | L>M | No |
TOPMed gnomAD |
|
rs773604119 | 795 | V>L | No |
ExAC gnomAD |
|
rs773604119 | 795 | V>M | No |
ExAC gnomAD |
|
rs2055880994 | 797 | S>C | No | TOPMed | |
COSM6142193 | 797 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs561234215 | 800 | Q>E | No |
1000Genomes ExAC gnomAD |
|
rs767594141 | 800 | Q>H | No |
ExAC TOPMed gnomAD |
|
rs199575682 | 801 | D>H | No |
ExAC TOPMed gnomAD |
|
rs199575682 | 801 | D>N | No |
ExAC TOPMed gnomAD |
|
rs2055881261 | 802 | P>L | No | TOPMed | |
rs765121071 | 802 | P>S | No |
ExAC gnomAD |
|
rs758212540 | 805 | I>V | No |
ExAC gnomAD |
|
rs766344763 | 806 | N>K | No |
ExAC TOPMed gnomAD |
|
rs141437157 | 807 | I>F | No |
ESP ExAC gnomAD |
|
rs141437157 | 807 | I>V | No |
ESP ExAC gnomAD |
|
rs754541814 | 808 | E>K | No |
ExAC TOPMed gnomAD |
|
rs200695279 | 809 | R>K | No |
TOPMed gnomAD |
|
rs780732445 | 810 | A>T | No |
ExAC gnomAD |
|
rs150820666 | 811 | E>K | No |
ESP ExAC gnomAD |
|
rs1175287634 | 812 | E>A | No | gnomAD | |
rs567521815 | 814 | T>I | No |
ExAC TOPMed gnomAD |
|
RCV000904790 COSM1269584 VAR_045889 rs1042057 |
815 | A>V | oesophagus [Cosmic] | No |
cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
COSM1231477 rs774952702 |
817 | G>D | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs1223009495 | 818 | S>R | No |
TOPMed gnomAD |
|
rs17854579 VAR_045890 |
819 | L>M | No |
UniProt Ensembl dbSNP |
|
rs745886196 | 820 | E>K | No |
ExAC TOPMed gnomAD |
|
rs745886196 | 820 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs1053401988 | 822 | P>L | No |
TOPMed gnomAD |
|
rs1053401988 | 822 | P>R | No |
TOPMed gnomAD |
|
rs1462758430 | 823 | G>V | No | gnomAD | |
rs17857364 VAR_045891 |
824 | R>G | No |
UniProt Ensembl dbSNP |
|
rs775751001 | 825 | D>N | No |
ExAC gnomAD |
|
rs775751001 | 825 | D>Y | No |
ExAC gnomAD |
|
rs1356953333 | 826 | Q>H | No | gnomAD | |
rs1295544569 | 826 | Q>K | No |
TOPMed gnomAD |
|
rs2055882592 | 827 | P>S | No | Ensembl | |
COSM4054549 | 829 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs762837448 | 830 | G>R | No |
ExAC gnomAD |
|
rs2055882926 | 831 | A>G | No | TOPMed | |
rs1273567519 | 831 | A>P | No |
TOPMed gnomAD |
|
VAR_041876 | 831 | A>T | No | UniProt | |
TCGA novel | 831 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2055882966 | 832 | G>R | No | Ensembl | |
rs891873192 | 833 | D>G | No | Ensembl | |
COSM3501094 | 833 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs751494773 | 834 | G>D | No |
ExAC TOPMed gnomAD |
|
rs754914658 | 836 | G>S | No |
ExAC gnomAD |
|
rs1366954253 | 837 | M>T | No |
TOPMed gnomAD |
|
rs1187582333 | 837 | M>V | No | gnomAD | |
rs1012042500 | 838 | G>R | No | Ensembl | |
rs1406206783 | 840 | V>L | No |
TOPMed gnomAD |
|
rs147314538 | 842 | G>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs777403586 | 843 | T>I | No |
ExAC gnomAD |
|
rs1595507433 | 843 | T>P | No | Ensembl | |
rs201567572 | 845 | S>T | No |
TOPMed gnomAD |
|
rs749576033 | 846 | D>A | No | ExAC | |
rs757661453 | 846 | D>E | No | ExAC | |
rs779193232 | 847 | C>Y | No |
ExAC TOPMed gnomAD |
|
rs774616927 | 848 | R>G | No | ExAC | |
rs746352808 | 848 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs1414556984 | 848 | R>W | No |
TOPMed gnomAD |
|
rs780225681 | 850 | I>L | No |
ExAC TOPMed gnomAD |
|
rs1476847305 | 850 | I>T | No | TOPMed | |
rs780225681 | 850 | I>V | No |
ExAC TOPMed gnomAD |
|
rs1270306588 | 851 | L>F | No | gnomAD | |
rs1338639778 | 851 | L>H | No | gnomAD | |
rs1270306588 | 851 | L>I | No | gnomAD | |
rs2055884385 | 852 | T>N | No | TOPMed | |
rs1595507478 | 852 | T>P | No | Ensembl | |
rs1282188739 | 853 | P>H | No |
TOPMed gnomAD |
|
rs1282188739 | 853 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1412537654 | 853 | P>S | No | gnomAD | |
rs374507338 | 854 | G>A | No |
ESP ExAC TOPMed gnomAD |
|
rs776938696 | 854 | G>R | No |
ExAC TOPMed gnomAD |
|
rs1283795325 | 858 | E>* | No | TOPMed | |
TCGA novel | 858 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs774083346 | 859 | Q>* | No |
ExAC gnomAD |
|
rs774083346 | 859 | Q>E | No |
ExAC gnomAD |
|
rs759453884 | 860 | P>L | No |
ExAC gnomAD |
|
rs752132711 | 861 | G>E | No |
ExAC gnomAD |
|
rs1448200677 | 861 | G>R | No | gnomAD | |
rs572730607 | 864 | E>* | No |
TOPMed gnomAD |
|
rs2055885205 | 864 | E>G | No | Ensembl | |
rs572730607 | 864 | E>K | No |
TOPMed gnomAD |
|
rs1595507521 | 865 | H>P | No | TOPMed | |
rs1595507521 | 865 | H>R | No | TOPMed | |
rs1595507528 | 866 | Q>* | No | Ensembl | |
rs1301489147 | 867 | P>S | No | gnomAD | |
rs571523140 | 868 | E>G | No |
1000Genomes ExAC gnomAD |
|
rs753505929 | 869 | S>C | No |
ExAC TOPMed gnomAD |
|
rs756898879 | 869 | S>R | No |
ExAC TOPMed gnomAD |
|
rs779329404 | 872 | N>H | No |
ExAC gnomAD |
|
rs1015984615 | 875 | Q>* | No |
TOPMed gnomAD |
|
COSM4054551 | 875 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs556552733 | 876 | R>G | No |
1000Genomes ExAC |
|
rs780739033 | 876 | R>S | No |
ExAC gnomAD |
|
rs747037135 | 877 | L>I | No |
ExAC gnomAD |
|
rs1463555345 | 880 | L>Q | No |
TOPMed gnomAD |
|
TCGA novel | 881 | Q>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1595507565 | 882 | Q>E | No | Ensembl | |
rs1426879940 | 882 | Q>R | No |
TOPMed gnomAD |
|
rs748400747 | 883 | G>E | No |
ExAC gnomAD |
|
rs1254128836 | 883 | G>R | No | gnomAD | |
rs774134072 | 887 | H>R | No |
ExAC TOPMed gnomAD |
|
rs1187382754 | 888 | S>G | No |
TOPMed gnomAD |
|
rs2055886251 | 888 | S>N | No |
TOPMed gnomAD |
|
rs759327175 | 888 | S>R | No |
ExAC TOPMed gnomAD |
|
rs767673747 | 889 | S>G | No |
TOPMed gnomAD |
|
rs1241487982 | 891 | C>W | No |
TOPMed gnomAD |
No associated diseases with Q06418
14 regional properties for Q06418
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Protein kinase domain | 518 - 790 | IPR000719 |
domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 519 - 786 | IPR001245 |
domain | Immunoglobulin subtype 2 | 55 - 124 | IPR003598-1 |
domain | Immunoglobulin subtype 2 | 151 - 210 | IPR003598-2 |
domain | Immunoglobulin subtype | 49 - 136 | IPR003599-1 |
domain | Immunoglobulin subtype | 145 - 222 | IPR003599-2 |
domain | Fibronectin type III | 225 - 320 | IPR003961-1 |
domain | Fibronectin type III | 323 - 416 | IPR003961-2 |
domain | Immunoglobulin-like domain | 36 - 128 | IPR007110-1 |
domain | Immunoglobulin-like domain | 139 - 220 | IPR007110-2 |
active_site | Tyrosine-protein kinase, active site | 651 - 663 | IPR008266 |
domain | Immunoglobulin I-set | 48 - 124 | IPR013098 |
binding_site | Protein kinase, ATP binding site | 524 - 550 | IPR017441 |
domain | Tyrosine-protein kinase, catalytic domain | 518 - 786 | IPR020635 |
Functions
Description | ||
---|---|---|
EC Number | 2.7.10.1 | Protein-tyrosine kinases |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
6 GO annotations of cellular component
Name | Definition |
---|---|
cell surface | The external part of the cell wall and/or plasma membrane. |
endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
nuclear envelope | The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
receptor complex | Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
5 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
phosphatidylinositol 3-kinase binding | Binding to a phosphatidylinositol 3-kinase, any enzyme that catalyzes the addition of a phosphate group to an inositol lipid at the 3' position of the inositol ring. |
protein tyrosine kinase activity | Catalysis of the reaction |
transmembrane receptor protein tyrosine kinase activity | Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction |
virus receptor activity | Combining with a virus component and mediating entry of the virus into the cell. |
30 GO annotations of biological process
Name | Definition |
---|---|
apoptotic cell clearance | The recognition and removal of an apoptotic cell by a neighboring cell or by a phagocyte. |
cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. |
establishment of localization in cell | Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. |
forebrain cell migration | The orderly movement of a cell from one site to another at least one of which is located in the forebrain. |
natural killer cell differentiation | The process in which a relatively unspecialized cell acquires the specialized features of a natural killer cell. |
negative regulation of inflammatory response | Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response. |
negative regulation of innate immune response | Any process that stops, prevents, or reduces the frequency, rate or extent of the innate immune response. |
negative regulation of lymphocyte activation | Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte activation. |
negative regulation of neuron apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons. |
negative regulation of toll-like receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate, or extent of toll-like receptor signaling pathway. |
nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
neuron apoptotic process | Any apoptotic process in a neuron, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. |
neuron cellular homeostasis | The cellular homeostatic process that preserves a neuron in a stable, differentiated functional and structural state. |
neuron migration | The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature. |
neuropeptide signaling pathway | A G protein-coupled receptor signaling pathway initiated by a neuropeptide binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process. |
ovulation cycle | The type of sexual cycle seen in females, often with physiologic changes in the endometrium that recur at regular intervals during the reproductive years. |
phagocytosis | A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. |
phosphatidylinositol 3-kinase/protein kinase B signal transduction | A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound. |
platelet activation | A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug. |
platelet aggregation | The adhesion of one platelet to one or more other platelets via adhesion molecules. |
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
positive regulation of viral life cycle | Any process that activates or increases the frequency, rate or extent of viral life cycle. |
protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
secretion by cell | The controlled release of a substance by a cell. |
signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
substrate adhesion-dependent cell spreading | The morphogenetic process that results in flattening of a cell as a consequence of its adhesion to a substrate. |
transmembrane receptor protein tyrosine kinase signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
vagina development | The reproductive developmental process whose specific outcome is the progression of the vagina over time, from its formation to the mature structure. |
54 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q98949 | TYRO3 | Tyrosine-protein kinase receptor TYRO3 | Gallus gallus (Chicken) | PR |
P08069 | IGF1R | Insulin-like growth factor 1 receptor | Homo sapiens (Human) | EV |
Q12866 | MERTK | Tyrosine-protein kinase Mer | Homo sapiens (Human) | EV |
P14616 | INSRR | Insulin receptor-related protein | Homo sapiens (Human) | SS |
P08922 | ROS1 | Proto-oncogene tyrosine-protein kinase ROS | Homo sapiens (Human) | SS |
Q01974 | ROR2 | Tyrosine-protein kinase transmembrane receptor ROR2 | Homo sapiens (Human) | EV |
Q9UM73 | ALK | ALK tyrosine kinase receptor | Homo sapiens (Human) | EV |
P07949 | RET | Proto-oncogene tyrosine-protein kinase receptor Ret | Homo sapiens (Human) | EV |
O15146 | MUSK | Muscle, skeletal receptor tyrosine-protein kinase | Homo sapiens (Human) | EV |
Q01973 | ROR1 | Inactive tyrosine-protein kinase transmembrane receptor ROR1 | Homo sapiens (Human) | PR |
Q16832 | DDR2 | Discoidin domain-containing receptor 2 | Homo sapiens (Human) | SS |
Q08345 | DDR1 | Epithelial discoidin domain-containing receptor 1 | Homo sapiens (Human) | EV |
Q16620 | NTRK2 | BDNF/NT-3 growth factors receptor | Homo sapiens (Human) | EV |
P04629 | NTRK1 | High affinity nerve growth factor receptor | Homo sapiens (Human) | EV |
Q16288 | NTRK3 | NT-3 growth factor receptor | Homo sapiens (Human) | SS |
P35916 | FLT4 | Vascular endothelial growth factor receptor 3 | Homo sapiens (Human) | SS |
P17948 | FLT1 | Vascular endothelial growth factor receptor 1 | Homo sapiens (Human) | SS |
P35968 | KDR | Vascular endothelial growth factor receptor 2 | Homo sapiens (Human) | EV |
P29317 | EPHA2 | Ephrin type-A receptor 2 | Homo sapiens (Human) | SS |
P21709 | EPHA1 | Ephrin type-A receptor 1 | Homo sapiens (Human) | SS |
P54760 | EPHB4 | Ephrin type-B receptor 4 | Homo sapiens (Human) | SS |
P29376 | LTK | Leukocyte tyrosine kinase receptor | Homo sapiens (Human) | SS |
P06213 | INSR | Insulin receptor | Homo sapiens (Human) | EV |
P11362 | FGFR1 | Fibroblast growth factor receptor 1 | Homo sapiens (Human) | EV |
P21802 | FGFR2 | Fibroblast growth factor receptor 2 | Homo sapiens (Human) | EV |
P22455 | FGFR4 | Fibroblast growth factor receptor 4 | Homo sapiens (Human) | SS |
P22607 | FGFR3 | Fibroblast growth factor receptor 3 | Homo sapiens (Human) | EV |
Q04912 | MST1R | Macrophage-stimulating protein receptor | Homo sapiens (Human) | EV |
P30530 | AXL | Tyrosine-protein kinase receptor UFO | Homo sapiens (Human) | PR |
P08581 | MET | Hepatocyte growth factor receptor | Homo sapiens (Human) | EV |
P04626 | ERBB2 | Receptor tyrosine-protein kinase erbB-2 | Homo sapiens (Human) | SS |
Q15303 | ERBB4 | Receptor tyrosine-protein kinase erbB-4 | Homo sapiens (Human) | SS |
P21860 | ERBB3 | Receptor tyrosine-protein kinase erbB-3 | Homo sapiens (Human) | SS |
P00533 | EGFR | Epidermal growth factor receptor | Homo sapiens (Human) | EV |
P34925 | RYK | Tyrosine-protein kinase RYK | Homo sapiens (Human) | PR |
Q02763 | TEK | Angiopoietin-1 receptor | Homo sapiens (Human) | SS |
P35590 | TIE1 | Tyrosine-protein kinase receptor Tie-1 | Homo sapiens (Human) | PR |
P10721 | KIT | Mast/stem cell growth factor receptor Kit | Homo sapiens (Human) | EV |
P09619 | PDGFRB | Platelet-derived growth factor receptor beta | Homo sapiens (Human) | EV |
P07333 | CSF1R | Macrophage colony-stimulating factor 1 receptor | Homo sapiens (Human) | SS |
P16234 | PDGFRA | Platelet-derived growth factor receptor alpha | Homo sapiens (Human) | EV |
P36888 | FLT3 | Receptor-type tyrosine-protein kinase FLT3 | Homo sapiens (Human) | EV |
Q62190 | Mst1r | Macrophage-stimulating protein receptor | Mus musculus (Mouse) | SS |
Q00993 | Axl | Tyrosine-protein kinase receptor UFO | Mus musculus (Mouse) | PR |
Q60805 | Mertk | Tyrosine-protein kinase Mer | Mus musculus (Mouse) | SS |
P55144 | Tyro3 | Tyrosine-protein kinase receptor TYRO3 | Mus musculus (Mouse) | SS |
Q01887 | Ryk | Tyrosine-protein kinase RYK | Mus musculus (Mouse) | PR |
Q2QLE0 | MET | Hepatocyte growth factor receptor | Sus scrofa (Pig) | PR |
P57097 | Mertk | Tyrosine-protein kinase Mer | Rattus norvegicus (Rat) | SS |
H2KZU7 | svh-2 | Tyrosine-protein kinase receptor svh-2 | Caenorhabditis elegans | SS |
Q9SCZ4 | FER | Receptor-like protein kinase FERONIA | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9FLW0 | At5g24010 | Probable receptor-like protein kinase At5g24010 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q3E8W4 | ANX2 | Receptor-like protein kinase ANXUR2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9YI66 | tyro3 | Tyrosine-protein kinase receptor TYRO3 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MALRRSMGRP | GLPPLPLPPP | PRLGLLLAAL | ASLLLPESAA | AGLKLMGAPV | KLTVSQGQPV |
70 | 80 | 90 | 100 | 110 | 120 |
KLNCSVEGME | EPDIQWVKDG | AVVQNLDQLY | IPVSEQHWIG | FLSLKSVERS | DAGRYWCQVE |
130 | 140 | 150 | 160 | 170 | 180 |
DGGETEISQP | VWLTVEGVPF | FTVEPKDLAV | PPNAPFQLSC | EAVGPPEPVT | IVWWRGTTKI |
190 | 200 | 210 | 220 | 230 | 240 |
GGPAPSPSVL | NVTGVTQSTM | FSCEAHNLKG | LASSRTATVH | LQALPAAPFN | ITVTKLSSSN |
250 | 260 | 270 | 280 | 290 | 300 |
ASVAWMPGAD | GRALLQSCTV | QVTQAPGGWE | VLAVVVPVPP | FTCLLRDLVP | ATNYSLRVRC |
310 | 320 | 330 | 340 | 350 | 360 |
ANALGPSPYA | DWVPFQTKGL | APASAPQNLH | AIRTDSGLIL | EWEEVIPEAP | LEGPLGPYKL |
370 | 380 | 390 | 400 | 410 | 420 |
SWVQDNGTQD | ELTVEGTRAN | LTGWDPQKDL | IVRVCVSNAV | GCGPWSQPLV | VSSHDRAGQQ |
430 | 440 | 450 | 460 | 470 | 480 |
GPPHSRTSWV | PVVLGVLTAL | VTAAALALIL | LRKRRKETRF | GQAFDSVMAR | GEPAVHFRAA |
490 | 500 | 510 | 520 | 530 | 540 |
RSFNRERPER | IEATLDSLGI | SDELKEKLED | VLIPEQQFTL | GRMLGKGEFG | SVREAQLKQE |
550 | 560 | 570 | 580 | 590 | 600 |
DGSFVKVAVK | MLKADIIASS | DIEEFLREAA | CMKEFDHPHV | AKLVGVSLRS | RAKGRLPIPM |
610 | 620 | 630 | 640 | 650 | 660 |
VILPFMKHGD | LHAFLLASRI | GENPFNLPLQ | TLIRFMVDIA | CGMEYLSSRN | FIHRDLAARN |
670 | 680 | 690 | 700 | 710 | 720 |
CMLAEDMTVC | VADFGLSRKI | YSGDYYRQGC | ASKLPVKWLA | LESLADNLYT | VQSDVWAFGV |
730 | 740 | 750 | 760 | 770 | 780 |
TMWEIMTRGQ | TPYAGIENAE | IYNYLIGGNR | LKQPPECMED | VYDLMYQCWS | ADPKQRPSFT |
790 | 800 | 810 | 820 | 830 | 840 |
CLRMELENIL | GQLSVLSASQ | DPLYINIERA | EEPTAGGSLE | LPGRDQPYSG | AGDGSGMGAV |
850 | 860 | 870 | 880 | ||
GGTPSDCRYI | LTPGGLAEQP | GQAEHQPESP | LNETQRLLLL | QQGLLPHSSC |