Q99767
SS
Gene name |
APBA2 (MINT2, X11L) |
Protein name |
Amyloid-beta A4 precursor protein-binding family A member 2 |
Names |
Adapter protein X11beta , Neuron-specific X11L protein , Neuronal Munc18-1-interacting protein 2 , Mint-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:321 |
EC number |
|
Protein Class |
|
Descriptions
Mint adaptor proteins bind to the amyloid precursor protein (APP) and regulate APP processing associated with Alzheimer’s disease. The Mint1 phosphotyrosine binding (PTB) domain that binds to APP is intramolecularly inhibited by the adjacent C-terminal linker region (the autoinhibitory helix) that folds back onto the core structure of the PTB domain and sterically hinders the APP binding site. This intramolecular interaction is disrupted by mutation of Tyr633 within Mint1 autoinhibitory helix, enhancing APP binding and β-amyloid production. As a result, Mint1 undergoes a conformational transition between a closed state that does not bind APP and an open state that involves APP binding and its proteolytic processing.
Autoinhibitory domains (AIDs)
Target domain |
362-545 (PTB domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q99767
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q99767-F1 | Predicted | AlphaFoldDB |
800 variants for Q99767
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV003289484 RCV002246958 rs140795962 |
77 | V>M | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| COSM960288 | 1 | M>? | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2041731367 | 3 | H>Y | No | gnomAD | |
| rs755550991 | 4 | R>G | No |
ExAC TOPMed gnomAD |
|
|
rs777078546 COSM3690353 |
4 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM5027936 rs755550991 |
4 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1179321282 | 9 | V>A | No | gnomAD | |
| rs774025744 | 9 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs774025744 | 9 | V>M | No |
ExAC TOPMed gnomAD |
|
|
rs2041733071 COSM5705836 |
10 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs771845389 | 10 | G>R | No |
ExAC gnomAD |
|
| rs1292592322 | 11 | S>N | No |
TOPMed gnomAD |
|
| rs2152887999 | 12 | G>A | No | Ensembl | |
| rs149792305 | 12 | G>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000913485 rs149792305 |
12 | G>S | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs571580177 | 13 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs2041734051 | 13 | M>L | No | Ensembl | |
| rs764052686 | 14 | L>F | No | ExAC | |
| rs1566949996 | 15 | D>E | No | Ensembl | |
| rs371009893 | 15 | D>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs371009893 | 15 | D>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs776526267 | 15 | D>Y | No | ExAC | |
| rs765271124 | 16 | H>L | No |
ExAC TOPMed gnomAD |
|
| rs750653807 | 16 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs765271124 | 16 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs2041735434 | 16 | H>Y | No | gnomAD | |
| rs2041736054 | 17 | R>K | No | Ensembl | |
| rs982836014 | 17 | R>S | No |
TOPMed gnomAD |
|
| rs2041736383 | 18 | V>L | No |
TOPMed gnomAD |
|
| rs758751173 | 20 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs758751173 | 20 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1397840983 | 21 | G>S | No | TOPMed | |
| rs145726347 | 22 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM1734092 rs145726347 |
22 | P>S | pancreas [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs145726347 | 22 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1321437891 | 23 | V>L | No | gnomAD | |
| rs755500155 | 25 | H>L | No |
ExAC gnomAD |
|
| rs374330797 | 26 | S>I | No |
ESP ExAC TOPMed |
|
| rs1566950138 | 27 | Q>* | No | TOPMed | |
| rs1308924264 | 27 | Q>H | No | gnomAD | |
| rs1566950138 | 27 | Q>K | No | TOPMed | |
| rs1273184337 | 27 | Q>R | No | gnomAD | |
| rs2041738990 | 28 | E>G | No | Ensembl | |
| rs753188362 | 29 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs2041739592 | 30 | E>K | No | TOPMed | |
| COSM4833466 | 30 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs778348823 | 31 | S>N | No |
ExAC TOPMed gnomAD |
|
|
COSM1245167 rs771718714 |
32 | E>K | oesophagus [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs750153512 | 33 | D>E | No | Ensembl | |
| rs2041740630 | 34 | M>T | No | TOPMed | |
| rs778993688 | 34 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs1447667941 | 35 | E>D | No |
TOPMed gnomAD |
|
| TCGA novel | 35 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1167443264 | 37 | P>A | No |
TOPMed gnomAD |
|
| rs746831479 | 37 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs746831479 | 37 | P>R | No |
ExAC gnomAD |
|
| rs1167443264 | 37 | P>T | No |
TOPMed gnomAD |
|
| TCGA novel | 40 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM700239 rs2041742132 |
40 | G>D | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
| rs2041741974 | 40 | G>S | No | gnomAD | |
| rs776598599 | 41 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs776598599 | 41 | Y>F | No |
ExAC TOPMed gnomAD |
|
| rs776598599 | 41 | Y>S | No |
ExAC TOPMed gnomAD |
|
| rs139506148 | 44 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| COSM6076931 | 45 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs187302261 | 45 | G>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 45 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1362949812 | 47 | E>K | No |
TOPMed gnomAD |
|
| rs1429363644 | 49 | A>P | No | gnomAD | |
| rs763197580 | 50 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs1270292553 | 50 | A>S | No | gnomAD | |
| rs763197580 | 50 | A>V | No |
ExAC TOPMed gnomAD |
|
| COSM700238 | 51 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs766735777 | 51 | L>R | No |
ExAC gnomAD |
|
| rs117098828 | 52 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs117098828 | 52 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs575379564 | 52 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1358255314 | 54 | E>G | No | TOPMed | |
|
rs142678624 RCV000888085 |
55 | S>N | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs142678624 | 55 | S>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM2083820 rs371759617 |
57 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM268249 rs141358568 |
57 | A>V | ovary large_intestine endometrium [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| rs757998938 | 58 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs1476468886 | 59 | E>Q | No | gnomAD | |
| rs2041747473 | 62 | E>G | No | Ensembl | |
| rs982732200 | 63 | C>W | No | TOPMed | |
| COSM4820889 | 64 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs746702725 | 64 | H>Y | No |
ExAC TOPMed gnomAD |
|
| rs1595845703 | 65 | N>S | No |
TOPMed gnomAD |
|
| rs2152888369 | 66 | H>R | No | Ensembl | |
| rs2041748899 | 68 | P>A | No | gnomAD | |
| rs768491624 | 68 | P>L | No |
ExAC gnomAD |
|
| rs1400012288 | 69 | D>G | No |
TOPMed gnomAD |
|
| rs780907005 | 69 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs780907005 | 69 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs780907005 | 69 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs1318979330 | 70 | G>R | No | gnomAD | |
| rs748059796 | 72 | S>P | No |
ExAC gnomAD |
|
| rs1234235064 | 74 | S>C | No | gnomAD | |
| rs773381805 | 74 | S>P | No |
ExAC gnomAD |
|
| rs926351055 | 76 | Y>C | No | TOPMed | |
| rs1351459253 | 78 | N>S | No |
TOPMed gnomAD |
|
| rs759737179 | 84 | E>D | No |
ExAC gnomAD |
|
| rs767868222 | 85 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs2041753160 | 85 | D>N | No | Ensembl | |
| rs2152888494 | 86 | Y>* | No | Ensembl | |
| COSM700235 | 86 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM376256 | 87 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1475670291 | 88 | E>A | No | gnomAD | |
| rs2041753725 | 88 | E>K | No | gnomAD | |
| rs2041754229 | 89 | G>C | No | gnomAD | |
| rs2041754229 | 89 | G>S | No | gnomAD | |
| COSM3500318 | 90 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM2083824 | 91 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1478022 | 92 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs761204189 | 93 | E>K | No |
ExAC TOPMed gnomAD |
|
| COSM3886817 | 94 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs200671482 | 94 | E>K | No |
TOPMed gnomAD |
|
| rs1159017620 | 95 | E>K | No | gnomAD | |
| rs1157556339 | 96 | G>D | No | Ensembl | |
| rs2041756198 | 97 | I>V | No | Ensembl | |
| rs202024248 | 98 | T>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs558299382 | 99 | Y>C | No |
ExAC gnomAD |
|
| rs1416213879 | 99 | Y>D | No | gnomAD | |
| rs558299382 | 99 | Y>S | No |
ExAC gnomAD |
|
| rs2041757504 | 101 | I>L | No | TOPMed | |
| rs1280581671 | 102 | R>C | No |
TOPMed gnomAD |
|
|
COSM1183167 rs903813670 |
102 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs2152888618 | 103 | Y>C | No | Ensembl | |
| rs777829251 | 105 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs2041758218 | 105 | P>S | No |
TOPMed gnomAD |
|
| rs2041758583 | 106 | E>K | No | Ensembl | |
| rs1486078973 | 107 | D>G | No | gnomAD | |
| rs1436946332 | 108 | D>G | No | gnomAD | |
|
COSM375306 rs771125386 |
108 | D>N | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs2041759908 | 112 | E>G | No | Ensembl | |
| rs746039722 | 114 | M>R | No |
ExAC TOPMed gnomAD |
|
| rs746039722 | 114 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs2041760349 | 115 | D>E | No | Ensembl | |
| TCGA novel | 115 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1172982230 | 118 | G>E | No | gnomAD | |
| rs2041761226 | 119 | E>G | No | Ensembl | |
| rs760926237 | 119 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1391139769 | 120 | E>G | No | gnomAD | |
| rs777117052 | 120 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs1337951871 | 123 | A>S | No | gnomAD | |
| rs1337951871 | 123 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1439301976 | 125 | S>G | No | gnomAD | |
| rs762364817 | 125 | S>N | No |
ExAC TOPMed gnomAD |
|
| COSM3500319 | 126 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs765816883 | 126 | A>V | No |
ExAC gnomAD |
|
| rs2041763223 | 128 | P>A | No | TOPMed | |
| rs2041763381 | 128 | P>H | No |
TOPMed gnomAD |
|
| rs2041763381 | 128 | P>R | No |
TOPMed gnomAD |
|
| rs2041763995 | 129 | V>G | No | TOPMed | |
| rs752440788 | 129 | V>M | No |
ExAC gnomAD |
|
| rs1196655998 | 130 | D>G | No | gnomAD | |
| rs2041764540 | 132 | D>G | No | Ensembl | |
| COSM4977970 | 132 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1478800184 | 133 | E>Q | No |
TOPMed gnomAD |
|
| rs777772001 | 133 | E>V | No |
ExAC TOPMed gnomAD |
|
| rs749183539 | 134 | C>R | No |
ExAC gnomAD |
|
| rs1368350557 | 135 | Q>H | No | TOPMed | |
| rs1163157161 | 136 | E>K | No | TOPMed | |
| COSM3500320 | 136 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM273624 rs143649138 |
137 | A>V | large_intestine [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| rs1169328284 | 138 | V>A | No | gnomAD | |
| rs772243386 | 138 | V>M | No |
ExAC gnomAD |
|
| rs2041767044 | 140 | E>* | No | Ensembl | |
| TCGA novel | 141 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1420013106 | 141 | W>C | No | gnomAD | |
| rs199963564 | 142 | T>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM960290 RCV000957251 rs144066720 |
144 | S>L | endometrium [Cosmic] | No |
cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| rs2041767783 | 144 | S>P | No | Ensembl | |
| rs765759759 | 145 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs926302102 | 146 | G>S | No |
TOPMed gnomAD |
|
| rs758943858 | 147 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs758943858 | 147 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs78253846 | 148 | H>P | No | gnomAD | |
| rs578050970 | 148 | H>Q | No |
TOPMed gnomAD |
|
| rs1295700266 | 148 | H>Y | No |
TOPMed gnomAD |
|
| rs760419830 | 149 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs760419830 | 149 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs373964837 | 150 | H>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs2041771025 | 150 | H>P | No | gnomAD | |
| rs373964837 | 150 | H>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs2041771589 | 151 | G>D | No | TOPMed | |
| rs750416280 | 151 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs747140897 | 153 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs150850452 | 155 | E>K | No |
ESP TOPMed |
|
| rs1566951594 | 156 | G>D | No | Ensembl | |
| rs199510860 | 158 | Q>E | No |
1000Genomes ExAC gnomAD |
|
| rs2152889005 | 158 | Q>L | No | Ensembl | |
| rs1595847032 | 159 | D>Y | No | Ensembl | |
| rs2041773156 | 161 | P>A | No | TOPMed | |
| rs372649988 | 162 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2041773969 | 163 | G>D | No | Ensembl | |
|
COSM960291 rs773558118 |
163 | G>S | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs569922946 | 165 | L>M | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 165 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775073176 | 166 | P>A | No |
ExAC TOPMed gnomAD |
|
|
rs148760039 RCV000879387 |
168 | P>L | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1257197032 | 168 | P>T | No |
1000Genomes TOPMed gnomAD |
|
| rs1293655082 | 170 | D>E | No | gnomAD | |
| rs201436314 | 170 | D>G | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 170 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2041776241 | 171 | E>A | No | TOPMed | |
| rs572236612 | 171 | E>K | No |
1000Genomes ExAC gnomAD |
|
| rs1213551629 | 172 | P>S | No |
TOPMed gnomAD |
|
| COSM3500321 | 173 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs554784948 | 174 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1206411930 | 177 | A>S | No | gnomAD | |
| rs1254901727 | 178 | H>Q | No | gnomAD | |
| rs1301965931 | 178 | H>R | No | TOPMed | |
|
rs758366553 COSM3956518 |
180 | Q>H | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs997532533 | 181 | E>G | No |
TOPMed gnomAD |
|
| rs2041777894 | 181 | E>K | No | TOPMed | |
| TCGA novel | 182 | E>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1188269429 | 183 | D>G | No |
TOPMed gnomAD |
|
| rs2152889127 | 183 | D>N | No | Ensembl | |
| TCGA novel | 183 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs779928121 | 184 | G>S | No |
ExAC gnomAD |
|
| rs751666150 | 185 | H>D | No |
ExAC TOPMed gnomAD |
|
| rs755144130 | 185 | H>Q | No |
ExAC gnomAD |
|
| rs781369597 | 187 | C>Y | No |
ExAC gnomAD |
|
| rs748407814 | 188 | A>V | No |
ExAC gnomAD |
|
| rs1373758558 | 189 | S>R | No | gnomAD | |
| TCGA novel | 191 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2152889169 COSM6076930 COSM554817 |
192 | G>C | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic Ensembl |
| rs2041779715 | 193 | Y>C | No | gnomAD | |
| TCGA novel | 194 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs778216048 | 194 | Q>R | No |
ExAC gnomAD |
|
| rs1168688108 | 195 | D>N | No |
TOPMed gnomAD |
|
| rs1313789694 | 196 | Y>H | No | gnomAD | |
| rs371099424 | 198 | P>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs371099424 | 198 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs771501234 | 198 | P>S | No |
ExAC TOPMed gnomAD |
|
|
rs771501234 COSM554816 COSM6076929 |
198 | P>T | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic ExAC TOPMed gnomAD |
| rs1277537835 | 199 | E>A | No |
TOPMed gnomAD |
|
| rs1485098773 | 199 | E>D | No | gnomAD | |
|
COSM1372279 rs146641926 |
199 | E>K | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 200 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761618105 | 202 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs867617298 | 202 | N>S | No | TOPMed | |
| rs2041782318 | 203 | G>E | No | Ensembl | |
|
COSM2083835 rs764880305 |
203 | G>R | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1566952083 | 204 | N>H | No | Ensembl | |
| rs2041782683 | 204 | N>K | No | Ensembl | |
| rs574988993 | 206 | G>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs574988993 COSM960292 |
206 | G>S | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs767649646 COSM960293 |
207 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs752901215 | 209 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs752901215 | 209 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs752901215 | 209 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1161014741 | 209 | P>S | No |
TOPMed gnomAD |
|
| rs1161014741 | 209 | P>T | No |
TOPMed gnomAD |
|
| rs1017217364 | 210 | Y>C | No | TOPMed | |
|
rs149847107 COSM3987891 |
211 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs149847107 | 211 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1372280 rs145833994 |
211 | 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 |
| rs145833994 | 211 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1373840539 | 213 | R>M | No | gnomAD | |
| rs545840181 | 213 | R>W | No |
1000Genomes ExAC gnomAD |
|
|
COSM1372281 rs148979602 |
214 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201991863 COSM960294 |
214 | R>H | large_intestine endometrium [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| rs201991863 | 214 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs148979602 | 214 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs776297327 | 215 | G>A | No |
ExAC gnomAD |
|
| rs776297327 | 215 | G>E | No |
ExAC gnomAD |
|
| rs1234385981 | 215 | G>R | No | gnomAD | |
| rs1234385981 | 215 | G>W | No | gnomAD | |
| rs1212274255 | 216 | D>G | No | gnomAD | |
| rs1175633628 | 216 | D>Y | No | TOPMed | |
| rs747733643 | 217 | G>R | No |
ExAC gnomAD |
|
| rs960381157 | 218 | D>H | No |
TOPMed gnomAD |
|
| rs960381157 | 218 | D>N | No |
TOPMed gnomAD |
|
| rs528235048 | 219 | L>P | No |
1000Genomes ExAC gnomAD |
|
| rs1566952376 | 221 | D>E | No | Ensembl | |
| rs1156752444 | 221 | D>Y | No | TOPMed | |
| rs762787422 | 222 | Q>L | No |
ExAC gnomAD |
|
| rs992279611 | 223 | E>K | No |
TOPMed gnomAD |
|
| rs766126956 | 224 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1440356258 | 225 | D>N | No | TOPMed | |
| rs1440356258 | 225 | D>Y | No | TOPMed | |
| rs1259132664 | 226 | I>T | No |
TOPMed gnomAD |
|
| COSM700232 | 228 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1194363412 | 230 | V>M | No |
TOPMed gnomAD |
|
| rs1222564312 | 235 | M>L | No |
1000Genomes TOPMed |
|
| rs1222564312 | 235 | M>V | No |
1000Genomes TOPMed |
|
| rs1170097537 | 238 | S>N | No | gnomAD | |
| rs1353391828 | 238 | S>R | No | TOPMed | |
| rs1244465451 | 241 | S>N | No | TOPMed | |
| rs1354886881 | 241 | S>R | No |
TOPMed gnomAD |
|
| rs1467007574 | 242 | I>M | No | gnomAD | |
| rs2041791855 | 244 | S>G | No | TOPMed | |
| rs767520940 | 244 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs767520940 | 244 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs756243157 | 245 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs756243157 | 245 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs754051972 | 246 | S>C | No |
ExAC gnomAD |
|
| rs754051972 | 246 | S>G | No |
ExAC gnomAD |
|
| rs979622969 | 246 | S>N | No | TOPMed | |
| rs2041793087 | 246 | S>R | No | TOPMed | |
| COSM4936720 | 248 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs757640707 | 249 | S>C | No |
ExAC gnomAD |
|
| rs376327815 | 251 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs943594747 | 252 | H>R | No |
TOPMed gnomAD |
|
| COSM960295 | 252 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1214908601 | 253 | G>R | No | gnomAD | |
| COSM6141875 | 254 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1474502869 | 255 | E>Q | No |
TOPMed gnomAD |
|
| rs1186094661 | 255 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
rs1420505854 COSM3719332 |
256 | P>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated gnomAD |
| rs370390349 | 257 | G>A | No |
ESP TOPMed gnomAD |
|
| rs370390349 | 257 | G>E | No |
ESP TOPMed gnomAD |
|
| TCGA novel | 258 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1393516418 | 259 | E>A | No | gnomAD | |
| COSM960296 | 259 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1393516418 | 259 | E>V | No | gnomAD | |
| rs1461864881 | 260 | D>E | No | gnomAD | |
| rs2041796326 | 261 | S>F | No | TOPMed | |
| rs772890395 | 261 | S>P | No |
ExAC gnomAD |
|
| rs1433220032 | 262 | V>A | No | gnomAD | |
| rs748959948 | 262 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1270347165 | 264 | A>G | No | gnomAD | |
| rs770745046 | 265 | C>Y | No |
ExAC TOPMed gnomAD |
|
| rs2041797128 | 266 | P>L | No | TOPMed | |
| rs1231128386 | 269 | K>R | No | gnomAD | |
| rs1291789171 | 270 | A>D | No |
TOPMed gnomAD |
|
| rs1291789171 | 270 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2041797770 | 272 | C>Y | No | gnomAD | |
| rs1315035774 | 274 | P>S | No |
TOPMed gnomAD |
|
| rs1315035774 | 274 | P>T | No |
TOPMed gnomAD |
|
| rs550567617 | 275 | S>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs772021276 | 276 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs775457181 | 276 | R>K | No |
ExAC gnomAD |
|
| rs1215199080 | 276 | R>S | No |
TOPMed gnomAD |
|
| rs760777807 | 277 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs1489379002 | 278 | E>K | No |
TOPMed gnomAD |
|
| rs1186124272 | 279 | A>T | No | gnomAD | |
|
COSM4053882 rs1416887852 |
279 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs2041800064 | 280 | R>K | No | TOPMed | |
| rs754082041 | 280 | R>S | No |
ExAC TOPMed gnomAD |
|
| COSM6141874 | 281 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs765633412 | 281 | P>R | No |
ExAC gnomAD |
|
|
rs199985120 COSM470479 |
283 | S>L | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1459732753 | 284 | L>M | No | TOPMed | |
| rs1361946862 | 285 | N>K | No | gnomAD | |
| rs780681693 | 286 | L>F | No |
ExAC gnomAD |
|
| rs2041801596 | 286 | L>P | No | TOPMed | |
| COSM5594194 | 287 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1311956414 | 287 | L>P | No | gnomAD | |
| rs755644822 | 289 | E>* | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 289 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2041802403 | 289 | E>G | No | Ensembl | |
|
COSM3815805 rs755644822 |
289 | E>K | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM433675 rs755644822 |
289 | E>Q | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD |
| rs887699550 | 291 | K>R | No | Ensembl | |
| rs777205343 | 292 | H>Y | No | ExAC | |
| rs375700005 | 294 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 294 | G>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs146924233 | 295 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs1223760259 | 295 | D>N | No | gnomAD | |
| rs368320674 | 296 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs771894648 | 296 | P>H | No |
ExAC gnomAD |
|
| rs771894648 | 296 | P>L | No |
ExAC gnomAD |
|
| rs368320674 | 296 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs368320674 | 296 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1257093680 | 299 | G>A | No |
TOPMed gnomAD |
|
| rs1257093680 | 299 | G>V | No |
TOPMed gnomAD |
|
| TCGA novel | 300 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1442717721 | 301 | K>E | No | gnomAD | |
| rs1189399192 | 302 | P>S | No | gnomAD | |
| rs1231011915 | 303 | K>E | No | gnomAD | |
| rs538627528 | 305 | R>K | No |
1000Genomes ExAC gnomAD |
|
| rs1432345957 | 306 | T>I | No | gnomAD | |
| rs2041805372 | 307 | P>A | No | TOPMed | |
| rs2041805372 | 307 | P>T | No | TOPMed | |
| TCGA novel | 308 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760591691 | 308 | E>G | No |
ExAC gnomAD |
|
| rs2041806020 | 309 | E>D | No | Ensembl | |
| rs2041806183 | 310 | R>K | No | TOPMed | |
|
rs8040932 VAR_050665 |
311 | L>P | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs8040932 | 311 | L>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| COSM3815806 | 312 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs370839894 | 313 | W>* | No |
ESP ExAC TOPMed gnomAD |
|
|
rs376263872 COSM3956519 |
315 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1379131912 COSM5685609 |
316 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs2152890062 | 316 | E>V | No | Ensembl | |
| rs143767566 | 317 | Q>R | No |
ESP TOPMed gnomAD |
|
| rs2042782184 | 318 | V>I | No | gnomAD | |
| rs112043277 | 319 | C>Y | No | Ensembl | |
| rs1259597997 | 320 | N>D | No | gnomAD | |
| rs764789330 | 320 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs2042782993 | 321 | G>D | No | TOPMed | |
| rs2152924733 | 321 | G>S | No | Ensembl | |
| rs758054035 | 322 | L>V | No |
ExAC TOPMed gnomAD |
|
| COSM700230 | 323 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1484871277 | 323 | E>G | No | gnomAD | |
| rs1484871277 | 323 | E>V | No | gnomAD | |
| rs138616031 | 326 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| COSM960297 | 326 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2042784226 | 327 | K>N | No | TOPMed | |
| rs754848396 | 328 | Q>* | No |
ExAC gnomAD |
|
| rs754848396 | 328 | Q>E | No |
ExAC gnomAD |
|
| rs1379756384 | 329 | Q>R | No | gnomAD | |
|
COSM184298 rs145494651 |
330 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1478023 rs748159428 |
330 | R>H | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs748159428 | 330 | R>P | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 331 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1373906288 | 331 | S>P | No |
TOPMed gnomAD |
|
| rs1403519129 | 332 | D>E | No | Ensembl | |
| rs562643065 | 332 | D>H | No |
1000Genomes ExAC gnomAD |
|
| rs749452214 | 333 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs771087956 | 334 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs1052442717 | 334 | N>S | No | gnomAD | |
| rs372423844 | 337 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs2042786580 | 338 | D>G | No | TOPMed | |
| rs949393976 | 339 | N>S | No |
TOPMed gnomAD |
|
| rs759790166 | 341 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs1241723268 | 341 | N>S | No | gnomAD | |
| rs759790166 | 341 | N>Y | No |
ExAC TOPMed gnomAD |
|
| rs376471096 | 342 | I>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs376471096 | 342 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 343 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2042787806 | 343 | P>S | No | gnomAD | |
| rs1477747631 | 345 | T>R | No | gnomAD | |
| rs893567577 | 347 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1009341164 | 347 | K>M | No | Ensembl | |
| rs1030091016 | 348 | V>A | No | TOPMed | |
| rs778998723 | 348 | V>M | No |
ExAC gnomAD |
|
| rs1004701257 | 349 | A>S | No |
TOPMed gnomAD |
|
| rs1004701257 | 349 | A>T | No |
TOPMed gnomAD |
|
| rs1169663930 | 350 | S>L | No | gnomAD | |
| rs1166907293 | 350 | S>P | No |
TOPMed gnomAD |
|
| rs2042836839 | 352 | P>T | No | TOPMed | |
| COSM4053883 | 353 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM700229 | 353 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2152926083 | 353 | S>R | No | 1000Genomes | |
| rs372937974 | 354 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 355 | V>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1467112928 | 355 | V>M | No | gnomAD | |
| rs1323871007 | 356 | A>S | No |
TOPMed gnomAD |
|
| rs1323871007 | 356 | A>T | No |
TOPMed gnomAD |
|
| TCGA novel | 360 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1216087103 | 361 | C>W | No |
TOPMed gnomAD |
|
| rs762436233 | 361 | C>Y | No |
ExAC TOPMed gnomAD |
|
|
rs2043659403 COSM4053884 |
362 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| COSM1372283 | 365 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs773916156 | 368 | D>H | No |
ExAC TOPMed gnomAD |
|
|
rs773916156 COSM4662327 |
368 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1473068404 | 369 | G>E | No | gnomAD | |
| rs1243950158 | 369 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1056401401 | 370 | I>V | No | TOPMed | |
| rs760544249 | 375 | N>S | No |
ExAC gnomAD |
|
| rs373508458 | 376 | Y>H | No |
ESP ExAC TOPMed gnomAD |
|
| COSM3500323 | 379 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2043663351 | 380 | T>I | No | Ensembl | |
| TCGA novel | 384 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765195472 | 386 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs376193947 | 386 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1042523150 | 388 | P>A | No | TOPMed | |
| rs2152952031 | 388 | P>L | No | Ensembl | |
| rs1286479532 | 389 | S>A | No | gnomAD | |
| rs1374677657 | 389 | S>Y | No | gnomAD | |
| rs758525004 | 390 | K>E | No |
ExAC gnomAD |
|
| rs1248625793 | 390 | K>N | No |
TOPMed gnomAD |
|
| rs906706011 | 390 | K>R | No | gnomAD | |
| rs1286953056 | 395 | M>I | No | gnomAD | |
| rs1003736043 | 397 | A>T | No | Ensembl | |
|
COSM184304 rs780215700 |
397 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs2043667467 | 399 | E>K | No | TOPMed | |
| rs755317945 | 400 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs755317945 | 400 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs267604150 | 400 | A>V | No | Ensembl | |
| TCGA novel | 402 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs773684496 | 403 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs770746873 | 403 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs745360008 | 404 | V>I | No |
ExAC gnomAD |
|
| rs2043669671 | 405 | K>R | No |
TOPMed gnomAD |
|
| rs1208750640 | 406 | R>K | No |
TOPMed gnomAD |
|
| COSM6141872 | 406 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2043735272 | 407 | M>I | No | Ensembl | |
| rs1314911383 | 407 | M>T | No |
TOPMed gnomAD |
|
| rs1188278796 | 407 | M>V | No |
TOPMed gnomAD |
|
| rs1567001359 | 411 | A>S | No | Ensembl | |
| rs376274303 | 413 | I>M | No |
ESP ExAC TOPMed gnomAD |
|
| COSM1372284 | 414 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2043736399 | 414 | K>Q | No | TOPMed | |
| rs2043736576 | 414 | K>R | No | gnomAD | |
| rs990721563 | 416 | K>N | No | TOPMed | |
|
COSM172307 rs766376050 |
417 | A>V | large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs757748034 | 419 | S>A | No |
ExAC gnomAD |
|
| rs779536029 | 419 | S>Y | No |
ExAC TOPMed gnomAD |
|
| rs2043961055 | 420 | E>D | No | gnomAD | |
| rs751041721 | 421 | G>E | No |
ExAC gnomAD |
|
| rs1437050908 | 421 | G>R | No |
TOPMed gnomAD |
|
| rs780576233 | 422 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs556378441 | 423 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs765140878 | 423 | A>V | No |
TOPMed gnomAD |
|
| TCGA novel | 424 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs371370074 | 425 | T>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs749057787 | 427 | T>A | No |
ExAC gnomAD |
|
|
rs375339761 COSM1372285 |
427 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1464795163 | 429 | V>A | No | gnomAD | |
| rs1211353619 | 430 | D>A | No | TOPMed | |
| COSM6076928 | 430 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1567008248 | 432 | F>L | No | Ensembl | |
| rs2043964560 | 435 | T>I | No | Ensembl | |
| rs760904540 | 436 | Q>H | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 437 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs764203983 | 438 | I>V | No |
ExAC gnomAD |
|
| rs1349945938 | 439 | K>N | No |
TOPMed gnomAD |
|
| rs777036379 | 440 | V>I | No |
ExAC gnomAD |
|
| rs1225053791 | 441 | L>S | No |
TOPMed gnomAD |
|
| TCGA novel | 443 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1298742133 | 443 | A>V | No |
TOPMed gnomAD |
|
| rs762268095 | 444 | D>E | No |
ExAC gnomAD |
|
|
COSM3969053 rs765758239 |
445 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs752627923 | 445 | T>S | No | Ensembl | |
| rs755574474 | 447 | E>K | No |
ExAC gnomAD |
|
| rs1476721058 | 448 | T>N | No |
TOPMed gnomAD |
|
| rs763650417 | 449 | M>T | No |
ExAC gnomAD |
|
| rs2044127483 | 450 | M>L | No | Ensembl | |
| rs1424270881 | 450 | M>T | No | gnomAD | |
| rs2044128004 | 453 | A>T | No |
TOPMed gnomAD |
|
| rs753422882 | 455 | R>C | No |
ExAC gnomAD |
|
|
rs142481200 COSM700227 |
455 | R>H | lung Variant assessed as Somatic; MODERATE impact. urinary_tract [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1220061817 | 456 | T>I | No | TOPMed | |
| TCGA novel | 460 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1304600903 | 461 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1351720611 | 462 | D>N | No |
TOPMed gnomAD |
|
| TCGA novel | 463 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 464 | G>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs745630621 | 466 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs2044130360 | 466 | I>V | No | Ensembl | |
| COSM4053886 | 467 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2152962890 | 469 | L>P | No | Ensembl | |
| rs202208854 | 473 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1216871912 | 473 | R>H | No |
TOPMed gnomAD |
|
| COSM700226 | 473 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs202208854 | 473 | R>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1287794300 | 474 | R>C | No |
TOPMed gnomAD |
|
| rs779264391 | 474 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs150891491 | 475 | M>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1487155554 | 476 | P>L | No |
TOPMed gnomAD |
|
| rs139362409 | 476 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs573898603 | 477 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs748337090 | 477 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs773529837 | 478 | S>A | No |
ExAC TOPMed gnomAD |
|
| rs773529837 | 478 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs1183470161 | 479 | A>T | No | gnomAD | |
| rs2044133617 | 481 | Q>R | No | TOPMed | |
| rs1180107121 | 483 | C>R | No | gnomAD | |
| rs2044133980 | 483 | C>Y | No | Ensembl | |
| rs763193966 | 484 | I>L | No |
ExAC gnomAD |
|
| rs771392666 | 484 | I>T | No |
ExAC gnomAD |
|
| rs763554780 | 485 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
|
rs150027586 COSM147868 |
487 | T>M | Variant assessed as Somatic; MODERATE impact. stomach [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1346218459 | 488 | P>L | No |
TOPMed gnomAD |
|
| rs1346218459 | 488 | P>R | No |
TOPMed gnomAD |
|
|
rs1413505682 COSM960298 |
488 | P>S | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| rs2044136509 | 489 | G>A | No | Ensembl | |
| rs978899574 | 489 | G>R | No |
TOPMed gnomAD |
|
| rs750160692 | 490 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1246828692 | 493 | G>S | No | gnomAD | |
| rs1317308549 | 494 | K>E | No | gnomAD | |
| rs1351740340 | 497 | Y>C | No | gnomAD | |
| rs368931245 | 498 | K>E | No |
ESP TOPMed gnomAD |
|
| rs758118684 | 499 | M>I | No |
ExAC gnomAD |
|
| rs1448537552 | 501 | C>Y | No | gnomAD | |
| rs779917223 | 502 | H>D | No |
ExAC gnomAD |
|
| rs1412473592 | 504 | F>I | No |
TOPMed gnomAD |
|
| rs781368703 | 504 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs1412473592 | 504 | F>L | No |
TOPMed gnomAD |
|
| COSM4825989 | 505 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM2083872 rs770032885 |
506 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs770032885 | 506 | S>W | No |
ExAC TOPMed gnomAD |
|
| COSM960300 | 507 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1471867609 | 509 | A>T | No | gnomAD | |
| rs1366398115 | 510 | Q>H | No | gnomAD | |
| rs1426317459 | 510 | Q>K | No | gnomAD | |
| rs2044343455 | 511 | L>I | No | TOPMed | |
| rs752622045 | 513 | A>S | No |
ExAC TOPMed gnomAD |
|
|
rs752622045 COSM960301 |
513 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs764031839 | 516 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs2044344516 | 516 | I>T | No | TOPMed | |
| rs2044344338 | 516 | I>V | No | Ensembl | |
| rs905563392 | 517 | G>D | No | gnomAD | |
| rs746149119 | 519 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs1361112982 | 519 | A>S | No | gnomAD | |
|
COSM4053887 rs746149119 |
519 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs2044345918 | 521 | S>T | No | TOPMed | |
| rs1419370407 | 522 | V>E | No | TOPMed | |
| rs1485755447 | 522 | V>M | No | gnomAD | |
| rs1160768182 | 523 | A>T | No | Ensembl | |
| rs1157581920 | 525 | Q>E | No |
TOPMed gnomAD |
|
| COSM3815807 | 526 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1264503288 | 526 | E>G | No | gnomAD | |
| rs769224997 | 529 | R>* | No |
ExAC gnomAD |
|
| rs769224997 | 529 | R>G | No |
ExAC gnomAD |
|
| rs777050127 | 529 | R>Q | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 530 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1446655833 | 531 | N>H | No | gnomAD | |
|
RCV000585237 rs1157094483 CA391405615 |
531 | N>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
| COSM3690354 | 532 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs748797564 | 534 | N>S | No |
ExAC gnomAD |
|
| rs2152969713 | 535 | P>H | No | Ensembl | |
| rs2152969713 | 535 | P>L | No | Ensembl | |
| TCGA novel | 535 | P>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs141259161 | 536 | E>K | No |
ESP ExAC gnomAD |
|
| rs141259161 | 536 | E>Q | No |
ESP ExAC gnomAD |
|
| rs1567019222 | 537 | D>G | No | Ensembl | |
|
rs1336820274 COSM4053888 |
539 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| COSM433676 | 541 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1384440989 | 541 | K>R | No | gnomAD | |
| rs775456844 | 543 | Y>H | No |
ExAC gnomAD |
|
| rs536714238 | 544 | S>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1343483535 | 545 | D>E | No |
TOPMed gnomAD |
|
| rs145117269 | 545 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 546 | I>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs368616906 | 546 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs375106382 | 547 | I>V | No |
ESP ExAC gnomAD |
|
| rs750580467 | 550 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs750580467 | 550 | Q>K | No |
ExAC TOPMed gnomAD |
|
| rs758654640 | 552 | M>I | No |
ExAC gnomAD |
|
| rs200385733 | 552 | M>T | No | Ensembl | |
| rs1228867047 | 552 | M>V | No |
TOPMed gnomAD |
|
| rs1276451086 | 554 | N>D | No |
TOPMed gnomAD |
|
| rs74731330 | 555 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs755334764 | 555 | D>H | No |
ExAC gnomAD |
|
| rs755334764 | 555 | D>N | No |
ExAC gnomAD |
|
| rs2044354895 | 559 | H>R | No | Ensembl | |
| rs2044355429 | 561 | S>L | No | TOPMed | |
| TCGA novel | 562 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs536636057 | 563 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs536636057 | 563 | S>W | No |
ExAC TOPMed gnomAD |
|
| rs1309588545 | 564 | E>K | No | gnomAD | |
| rs1309588545 | 564 | E>Q | No | gnomAD | |
| rs760513126 | 566 | C>S | No |
ExAC gnomAD |
|
| rs768391832 | 566 | C>S | No |
ExAC gnomAD |
|
| rs370580206 | 571 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs2044420895 | 573 | K>T | No | TOPMed | |
| rs1362705807 | 574 | H>L | No |
TOPMed gnomAD |
|
| rs2044421481 | 575 | K>R | No | TOPMed | |
| rs1383505878 | 576 | G>D | No | gnomAD | |
| rs1165814854 | 577 | E>Q | No | gnomAD | |
| rs2044422268 | 578 | I>M | No | TOPMed | |
| rs2152971840 | 578 | I>N | No | Ensembl | |
| rs757921952 | 581 | V>L | No |
ExAC TOPMed gnomAD |
|
|
COSM4053889 rs757921952 |
581 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs2152971868 | 582 | V>E | No | Ensembl | |
| rs2044423245 | 583 | V>L | No | Ensembl | |
| rs532620175 | 585 | E>D | No |
1000Genomes ExAC gnomAD |
|
| rs768061422 | 586 | S>* | No |
ExAC TOPMed gnomAD |
|
| rs768061422 | 586 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs780942475 | 588 | W>* | No |
ExAC gnomAD |
|
| rs747910571 | 594 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs747910571 | 594 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1179578585 | 595 | V>L | No | gnomAD | |
| rs773123140 | 596 | I>V | No |
ExAC gnomAD |
|
| rs370191190 | 598 | A>T | No |
ESP ExAC gnomAD |
|
| rs2044426432 | 599 | N>H | No | Ensembl | |
| TCGA novel | 599 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1394323689 | 599 | N>K | No | Ensembl | |
| rs770932201 | 599 | N>S | No |
ExAC TOPMed |
|
| rs1387400563 | 600 | M>T | No | gnomAD | |
| TCGA novel | 601 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774326641 | 603 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs1399356554 | 603 | G>S | No | gnomAD | |
| rs1046394 | 604 | G>C | No | gnomAD | |
| rs1046394 | 604 | G>S | No | gnomAD | |
| rs767612508 | 605 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs761106982 | 607 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs764565063 | 608 | R>C | No |
ExAC TOPMed gnomAD |
|
|
rs2044428932 COSM217074 |
608 | R>H | liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs754328467 | 609 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs754328467 | 609 | S>W | No |
ExAC TOPMed gnomAD |
|
| rs369961204 | 611 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 613 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs754560211 | 614 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1306951159 | 615 | G>E | No |
TOPMed gnomAD |
|
| COSM700224 | 617 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2044430490 | 618 | I>F | No | TOPMed | |
| rs2044430490 | 618 | I>V | No | TOPMed | |
| rs747859164 | 619 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs755847379 | 620 | S>F | No |
ExAC gnomAD |
|
| rs913770313 | 622 | N>D | No | Ensembl | |
| TCGA novel | 623 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs777550144 | 623 | G>D | No | ExAC | |
| rs749185300 | 624 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs749185300 | 624 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs76687371 | 629 | L>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1402889065 | 631 | L>F | No | gnomAD | |
| rs1470357140 | 632 | A>G | No |
TOPMed gnomAD |
|
| rs142893923 | 632 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs142893923 | 632 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1470357140 | 632 | A>V | No |
TOPMed gnomAD |
|
| rs764511552 | 633 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs4581676 | 634 | C>G | No | Ensembl | |
| rs1158361250 | 634 | C>S | No | TOPMed | |
| rs1419720571 | 636 | G>S | No |
TOPMed gnomAD |
|
| rs765626374 | 639 | K>R | No |
ExAC gnomAD |
|
| rs936650389 | 640 | G>R | No |
TOPMed gnomAD |
|
| rs936650389 | 640 | G>S | No |
TOPMed gnomAD |
|
| rs1392234509 | 640 | G>V | No | gnomAD | |
| rs1595993011 | 641 | L>R | No | Ensembl | |
| rs768919844 | 643 | N>K | No |
ExAC gnomAD |
|
| rs748419475 | 644 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs781554747 | 644 | Q>R | No |
ExAC gnomAD |
|
| TCGA novel | 645 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs769989504 | 646 | Q>* | No |
ExAC gnomAD |
|
| TCGA novel | 646 | Q>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1257448092 | 646 | Q>R | No | TOPMed | |
| rs1256980787 | 649 | L>F | No |
TOPMed gnomAD |
|
| rs1227488253 | 651 | I>V | No |
TOPMed gnomAD |
|
| rs1184184898 | 652 | V>I | No | TOPMed | |
| rs763321157 | 653 | S>C | No |
ExAC gnomAD |
|
| rs2044542361 | 653 | S>T | No | TOPMed | |
| rs1244866975 | 655 | P>H | No |
TOPMed gnomAD |
|
| rs1244866975 | 655 | P>L | No |
TOPMed gnomAD |
|
| rs1244866975 | 655 | P>R | No |
TOPMed gnomAD |
|
| rs2044542736 | 655 | P>S | No | TOPMed | |
| TCGA novel | 656 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774878617 | 658 | T>A | No |
ExAC gnomAD |
|
| rs760175228 | 658 | T>S | No |
ExAC gnomAD |
|
| rs148181204 | 659 | T>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148181204 COSM3769565 |
659 | T>M | pancreas [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| rs1193959626 | 661 | L>H | No | gnomAD | |
| TCGA novel | 662 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2044544628 | 663 | K>E | No | TOPMed | |
| rs1442942995 | 663 | K>N | No | gnomAD | |
| rs761555744 | 663 | K>R | No |
ExAC gnomAD |
|
| rs764890425 | 664 | R>Q | No |
ExAC gnomAD |
|
| rs1163175260 | 664 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| TCGA novel | 665 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 667 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM470480 rs751602124 |
675 | V>M | kidney liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| COSM700222 | 678 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM700223 rs2044546849 |
678 | G>R | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| rs755055200 | 679 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs2044884771 | 680 | I>L | No | TOPMed | |
| rs775167847 | 682 | S>R | No |
ExAC gnomAD |
|
| rs746870102 | 683 | L>P | No |
ExAC gnomAD |
|
| rs2044885730 | 684 | M>R | No | Ensembl | |
| rs1268132293 | 684 | M>V | No | gnomAD | |
| rs2044886363 | 686 | G>A | No | gnomAD | |
| TCGA novel | 686 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs149339035 | 687 | G>C | No |
ESP TOPMed |
|
| rs149339035 | 687 | G>S | No |
ESP TOPMed |
|
| rs761863849 | 688 | I>T | No |
ExAC gnomAD |
|
| rs1171968035 | 689 | A>G | No | TOPMed | |
| rs765311604 | 691 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| COSM1372288 | 693 | G>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM210935 rs144849809 |
694 | V>I | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP NCI-TCGA TOPMed gnomAD |
| COSM1372289 | 695 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs763118417 | 695 | R>H | No |
ExAC gnomAD |
|
| COSM1372290 | 695 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs755413618 COSM4053891 |
699 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| COSM4053892 | 699 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1417853302 | 702 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
|
rs1567033604 COSM4053893 |
702 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
| rs1250353092 | 703 | I>T | No | TOPMed | |
| rs1321126475 | 704 | N>S | No | gnomAD | |
|
rs753314225 COSM4053894 |
705 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1223103070 | 706 | Q>R | No | gnomAD | |
|
COSM1608225 rs538291011 |
708 | V>M | liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1277159529 | 710 | A>S | No | gnomAD | |
| rs776291739 | 712 | A>V | No | Ensembl | |
| rs540117581 | 713 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs776488761 | 714 | E>D | No |
ExAC gnomAD |
|
| rs372888964 | 714 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs2044894144 | 716 | I>T | No | Ensembl | |
| rs866981185 | 718 | Q>* | No | Ensembl | |
| rs748080399 | 718 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs1006290570 | 719 | A>T | No |
TOPMed gnomAD |
|
| rs769822040 | 719 | A>V | No |
ExAC gnomAD |
|
| rs763145159 | 722 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs766483232 | 722 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs766483232 | 722 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs759806553 | 723 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs997231394 | 724 | V>I | No | Ensembl | |
| rs1441180683 | 725 | G>R | No |
TOPMed gnomAD |
|
| rs755974076 | 728 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs777562567 | 729 | M>V | No |
ExAC gnomAD |
|
| rs749262017 | 730 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs1596026718 | 731 | T>P | No | Ensembl | |
| rs1391730292 | 734 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1027753253 | 735 | A>T | No |
TOPMed gnomAD |
|
| rs377067685 | 736 | M>T | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 737 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1325363245 | 742 | G>S | No | gnomAD | |
| rs1435305426 | 743 | Q>H | No | gnomAD | |
| TCGA novel | 743 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1380176337 | 745 | T>N | No | gnomAD | |
| rs1380176337 | 745 | T>S | No | gnomAD | |
| TCGA novel | 746 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1282168321 | 748 | Y>H | No |
TOPMed gnomAD |
|
| rs1005056478 | 749 | I>T | No | Ensembl | |
| rs2045231409 | 750 | I>W | No |
TOPMed gnomAD |
No associated diseases with Q99767
3 regional properties for Q99767
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | PDZ domain | 567 - 655 | IPR001478-1 |
| domain | PDZ domain | 657 - 735 | IPR001478-2 |
| domain | PTB/PI domain | 367 - 555 | IPR006020 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| dendritic spine | A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| presynapse | The part of a synapse that is part of the presynaptic cell. |
| Schaffer collateral - CA1 synapse | A synapse between the Schaffer collateral axon of a CA3 pyramidal cell and a CA1 pyramidal cell. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| amyloid-beta binding | Binding to an amyloid-beta peptide/protein. |
| identical protein binding | Binding to an identical protein or proteins. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| chemical synaptic transmission | The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| locomotory behavior | The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions. |
| multicellular organism growth | The increase in size or mass of an entire multicellular organism, as opposed to cell growth. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| presynaptic modulation of chemical synaptic transmission | Any process, acting in the presynapse that results in modulation of chemical synaptic transmission. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q02410 | APBA1 | Amyloid-beta A4 precursor protein-binding family A member 1 | Homo sapiens (Human) | SS |
| Q9H190 | SDCBP2 | Syntenin-2 | Homo sapiens (Human) | SS |
| O00560 | SDCBP | Syntenin-1 | Homo sapiens (Human) | EV |
| B2RUJ5 | Apba1 | Amyloid-beta A4 precursor protein-binding family A member 1 | Mus musculus (Mouse) | SS |
| P98084 | Apba2 | Amyloid-beta A4 precursor protein-binding family A member 2 | Mus musculus (Mouse) | SS |
| O35430 | Apba1 | Amyloid-beta A4 precursor protein-binding family A member 1 | Rattus norvegicus (Rat) | EV |
| O35431 | Apba2 | Amyloid-beta A4 precursor protein-binding family A member 2 | Rattus norvegicus (Rat) | SS |
| O17583 | lin-10 | Protein lin-10 | Caenorhabditis elegans | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAHRKLESVG | SGMLDHRVRP | GPVPHSQEPE | SEDMELPLEG | YVPEGLELAA | LRPESPAPEE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QECHNHSPDG | DSSSDYVNNT | SEEEDYDEGL | PEEEEGITYY | IRYCPEDDSY | LEGMDCNGEE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YLAHSAHPVD | TDECQEAVEE | WTDSAGPHPH | GHEAEGSQDY | PDGQLPIPED | EPSVLEAHDQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EEDGHYCASK | EGYQDYYPEE | ANGNTGASPY | RLRRGDGDLE | DQEEDIDQIV | AEIKMSLSMT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SITSASEASP | EHGPEPGPED | SVEACPPIKA | SCSPSRHEAR | PKSLNLLPEA | KHPGDPQRGF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KPKTRTPEER | LKWPHEQVCN | GLEQPRKQQR | SDLNGPVDNN | NIPETKKVAS | FPSFVAVPGP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CEPEDLIDGI | IFAANYLGST | QLLSERNPSK | NIRMMQAQEA | VSRVKRMQKA | AKIKKKANSE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GDAQTLTEVD | LFISTQRIKV | LNADTQETMM | DHALRTISYI | ADIGNIVVLM | ARRRMPRSAS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QDCIETTPGA | QEGKKQYKMI | CHVFESEDAQ | LIAQSIGQAF | SVAYQEFLRA | NGINPEDLSQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KEYSDIINTQ | EMYNDDLIHF | SNSENCKELQ | LEKHKGEILG | VVVVESGWGS | ILPTVILANM |
| 610 | 620 | 630 | 640 | 650 | 660 |
| MNGGPAARSG | KLSIGDQIMS | INGTSLVGLP | LATCQGIIKG | LKNQTQVKLN | IVSCPPVTTV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LIKRPDLKYQ | LGFSVQNGII | CSLMRGGIAE | RGGVRVGHRI | IEINGQSVVA | TAHEKIVQAL |
| 730 | 740 | ||||
| SNSVGEIHMK | TMPAAMFRLL | TGQETPLYI |