Q495A1
Gene name |
TIGIT (VSIG9, VSTM3) |
Protein name |
T-cell immunoreceptor with Ig and ITIM domains |
Names |
V-set and immunoglobulin domain-containing protein 9, V-set and transmembrane domain-containing protein 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:201633 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
8 structures for Q495A1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3Q0H | X-ray | 170 A | A/B | 22-137 | PDB |
| 3RQ3 | X-ray | 270 A | A/B | 22-137 | PDB |
| 3UCR | X-ray | 263 A | A/B/C/D | 23-128 | PDB |
| 3UDW | X-ray | 290 A | A/B | 20-128 | PDB |
| 5V52 | X-ray | 310 A | A/B | 22-128 | PDB |
| 7VYT | X-ray | 153 A | A/T | 23-129 | PDB |
| 8SZY | X-ray | 231 A | T/U | 23-128 | PDB |
| AF-Q495A1-F1 | Predicted | AlphaFoldDB |
223 variants for Q495A1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA81660403 rs977245811 |
2 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs138322602 CA2550937 |
2 | R>H | Variant assessed as Somatic; 5.895e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs138322602 CA354001981 |
2 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138322602 CA354001985 |
2 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354001970 rs977245811 COSM3426906 |
2 | R>S | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA81660408 rs938517138 |
3 | W>* | No |
ClinGen gnomAD |
|
|
rs1421141599 CA354002017 |
3 | W>G | No |
ClinGen gnomAD |
|
|
CA354002011 rs1421141599 |
3 | W>R | No |
ClinGen gnomAD |
|
|
CA354002043 rs1360039945 |
4 | C>G | No |
ClinGen gnomAD |
|
|
rs1425212224 CA354002047 |
4 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 5 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363645948 CA354002078 |
5 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1363645948 CA354002077 |
5 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA354002104 rs1435416102 |
7 | L>P | No |
ClinGen gnomAD |
|
|
rs149574739 CA354002107 |
8 | I>F | No |
ClinGen ESP gnomAD |
|
|
CA81660417 rs149574739 |
8 | I>V | No |
ClinGen ESP gnomAD |
|
|
rs1221754538 CA354002132 |
9 | W>R | No |
ClinGen gnomAD |
|
|
CA354002162 rs1161667590 |
10 | A>D | No |
ClinGen TOPMed |
|
|
CA81660425 rs894398089 |
11 | Q>P | No |
ClinGen gnomAD |
|
|
rs1037690852 CA81660457 |
14 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs771830740 CA2550941 |
14 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1481730480 CA354002299 |
15 | Q>P | No |
ClinGen gnomAD |
|
|
rs1481730480 CA354002307 |
15 | Q>R | No |
ClinGen gnomAD |
|
|
rs777596601 CA2550942 |
16 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2550943 rs777596601 |
16 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA81660481 rs897902406 |
17 | P>H | No |
ClinGen Ensembl |
|
|
CA354002376 rs1576134457 |
18 | L>P | No |
ClinGen Ensembl |
|
|
rs377262337 CA2550946 |
19 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1467777402 CA354003425 |
23 | M>L | No |
ClinGen TOPMed |
|
|
rs1169726816 CA354003455 |
25 | G>D | No |
ClinGen gnomAD |
|
|
CA2550967 rs768453703 |
27 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs749016800 CA2550966 |
27 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2550965 rs775439016 |
27 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2550969 rs376892258 |
30 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2550968 COSM1229291 rs376892258 |
30 | T>M | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs759559781 CA2550972 |
31 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA354003526 rs776752435 |
31 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2550971 rs776752435 |
31 | G>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 32 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354003533 rs1324498331 |
32 | N>T | No |
ClinGen gnomAD |
|
|
rs200039145 CA2550974 |
33 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs13098836 CA2550973 VAR_056079 |
33 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM445338 CA354003551 rs1441981882 |
34 | S>F | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA354003557 rs1193996002 |
35 | A>S | No |
ClinGen gnomAD |
|
|
rs142063959 COSM460948 CA2550975 |
36 | E>K | cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs752473184 CA81661749 |
38 | G>D | No |
ClinGen Ensembl |
|
|
CA81661755 rs752473184 |
38 | G>V | No |
ClinGen Ensembl |
|
|
rs1428691057 CA354003648 |
39 | G>D | No |
ClinGen TOPMed |
|
|
rs1474404755 CA354003661 |
40 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 40 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354003671 rs1192629675 |
41 | I>V | No |
ClinGen gnomAD |
|
|
rs1429798923 CA354003729 |
43 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 43 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354003732 rs1344755068 |
44 | Q>K | No |
ClinGen TOPMed |
|
|
rs764546288 CA2550976 |
45 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs756912053 CA354003789 |
46 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA354003778 rs1401063877 |
46 | H>Y | No |
ClinGen gnomAD |
|
|
rs1319745958 CA354003802 |
47 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 47 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1267845 rs200389176 CA2550981 |
51 | T>M | oesophagus stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA354003889 rs1277935363 |
51 | T>S | No |
ClinGen gnomAD |
|
|
CA2550983 rs373718714 |
52 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354003988 rs1386709957 |
56 | Q>* | No |
ClinGen gnomAD |
|
|
CA354004026 rs1286479882 |
57 | V>F | No |
ClinGen gnomAD |
|
|
rs747946258 CA2550986 |
58 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1490761203 CA354004142 |
63 | D>G | No |
ClinGen gnomAD |
|
|
CA2550989 rs759599957 |
65 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs775775535 CA2550991 |
67 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560031099 CA354004245 |
68 | I>S | No |
ClinGen Ensembl |
|
|
rs1217152679 CA354004266 |
69 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2550992 rs763518590 |
70 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs751902028 CA2550994 |
71 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA2550995 rs757591394 |
73 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA81661894 rs139315838 |
75 | W>* | No |
ClinGen ESP |
|
|
rs202226565 CA2550996 |
75 | W>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750059977 CA2550997 |
76 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs750059977 CA2550998 |
76 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs779535772 CA2550999 |
77 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs779535772 CA354004556 |
77 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1330712252 CA354004649 |
80 | S>P | No |
ClinGen gnomAD |
|
|
CA2551000 rs142612818 |
82 | K>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1036624 CA2551001 rs754891716 |
84 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1351685650 CA354004787 |
84 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA354004784 COSM1417931 rs1351685650 |
84 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA2551002 rs778740978 |
85 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA2551003 rs747938838 |
86 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1207805180 CA354004841 |
87 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs771774475 CA2551004 |
87 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172005867 CA354004904 |
90 | G>D | No |
ClinGen TOPMed |
|
|
CA2551005 rs777679603 |
90 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560031155 CA354004925 |
91 | L>P | No |
ClinGen Ensembl |
|
|
rs915945678 CA81661995 |
92 | G>C | No |
ClinGen TOPMed |
|
|
rs770177197 CA2551007 |
94 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs539986801 CA2551008 |
95 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763148240 CA2551009 |
95 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs554420760 CA2551010 |
96 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA2551011 rs376092576 |
97 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA81662066 rs376092576 |
97 | S>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1374976236 CA354005164 |
99 | T>I | No |
ClinGen gnomAD |
|
|
CA354005162 rs1374976236 |
99 | T>N | No |
ClinGen gnomAD |
|
|
rs207463547 CA2551013 |
100 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1294185632 CA354005209 |
101 | N>H | No |
ClinGen TOPMed |
|
|
rs1361462365 CA354005214 |
101 | N>S | No |
ClinGen gnomAD |
|
|
COSM296339 rs146935299 CA2551015 |
102 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1339906231 CA354005314 |
105 | E>A | No |
ClinGen gnomAD |
|
|
rs766072812 CA2551016 |
105 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779700793 CA354005330 |
106 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779700793 CA2551018 |
106 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348411395 CA354005373 |
107 | F>C | No |
ClinGen Ensembl |
|
|
CA354005390 rs1299695437 |
108 | C>Y | No |
ClinGen TOPMed |
|
|
rs752561004 CA354005520 |
111 | H>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 111 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 114 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs559114697 CA2551021 |
114 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201219748 CA2551022 |
117 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1165250020 CA354005764 |
119 | T>N | No |
ClinGen TOPMed |
|
|
rs1398330159 CA354005999 |
128 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 128 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1576135716 CA354005962 |
128 | E>Q | No |
ClinGen Ensembl |
|
|
rs201068475 CA2551026 |
129 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201068475 CA354006028 |
129 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 130 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA81664812 rs966813707 |
133 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2551046 rs778828718 |
134 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA354008169 rs1231845530 |
134 | H>R | No |
ClinGen gnomAD |
|
|
rs868139905 CA81664817 |
134 | H>Y | No |
ClinGen gnomAD |
|
|
CA2551047 rs147774909 |
135 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354008225 rs1442193093 |
137 | R>M | No |
ClinGen TOPMed |
|
|
rs1219504964 CA354008227 CA354008226 |
137 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2551049 rs375103800 |
139 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2551050 CA2551051 rs149263615 |
139 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1195585172 CA354008328 |
140 | I>L | No |
ClinGen TOPMed |
|
|
CA354008376 rs1360621086 |
141 | P>S | No |
ClinGen TOPMed |
|
|
COSM1535860 CA81664846 rs201218843 |
145 | A>D | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs201218843 CA2551052 |
145 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2551053 rs759155389 |
147 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA81664859 rs759155389 |
147 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs369133784 CA2551055 |
148 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1036626 CA2551056 rs762554753 |
148 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs141092303 CA2551058 |
149 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2551060 rs767417384 |
153 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA354008836 rs1218334207 |
155 | T>I | No |
ClinGen gnomAD |
|
|
CA354008885 rs1307066296 |
157 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA81664896 rs973073725 |
158 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs143771376 CA354008951 |
159 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2551062 rs143771376 |
159 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2551064 rs779221087 |
160 | V>M | No |
ClinGen ExAC |
|
|
CA2551066 rs147577671 |
162 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778198855 CA2551067 |
162 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs148148852 CA2551069 |
164 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1441561287 CA354009038 |
165 | R>G | No |
ClinGen gnomAD |
|
|
CA2551070 rs776955721 |
166 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354011935 rs1223552727 |
167 | K>R | No |
ClinGen TOPMed |
|
|
rs1286412108 CA354012055 |
171 | R>I | No |
ClinGen gnomAD |
|
|
rs761432495 CA2551096 |
173 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs951616208 CA81669748 |
174 | S>Y | No |
ClinGen TOPMed |
|
|
rs538730611 CA2551097 |
180 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773208493 CA2551098 |
181 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs545231937 CA2551099 |
183 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371034512 CA2551100 |
184 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 184 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 185 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2551101 rs753612238 |
186 | Q>R | No |
ClinGen ExAC |
|
|
rs1212349351 CA354012511 |
187 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA81669760 rs868291940 |
189 | W>* | No |
ClinGen gnomAD |
|
|
rs964918077 CA81669764 |
190 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2551102 rs763135636 |
190 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2551103 rs764320930 |
192 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA2551104 rs751596536 |
193 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1337670342 CA354012749 |
193 | A>V | No |
ClinGen TOPMed |
|
|
rs757332270 CA2551105 |
194 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2551107 rs750928047 |
196 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200210113 CA81669787 |
196 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1357508515 CA354012840 |
197 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 197 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756645505 CA2551108 |
197 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 198 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA81669794 rs1022524945 |
199 | S>G | No |
ClinGen Ensembl |
|
|
CA2551109 rs780435762 |
200 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA81669799 rs968341813 |
202 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA354013093 rs1441745465 |
204 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2551111 rs749664204 |
204 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 204 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354013087 rs749664204 |
204 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs978431380 CA81669808 |
207 | P>L | No |
ClinGen TOPMed |
|
|
rs978431380 CA354013180 |
207 | P>R | No |
ClinGen TOPMed |
|
|
rs1190318925 CA354013177 |
207 | P>S | No |
ClinGen TOPMed |
|
|
CA2551113 rs778741859 |
208 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA354013195 rs1246976269 |
208 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1203915180 CA354013249 |
209 | G>A | No |
ClinGen TOPMed |
|
|
CA2551114 rs765962768 |
211 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs760660502 CA2551117 |
213 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 213 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2551116 rs772660560 |
213 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2551119 rs776434009 |
215 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2551118 COSM1036628 rs770819863 |
215 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1210010014 CA354013482 |
216 | G>A | No |
ClinGen TOPMed |
|
|
CA2551120 rs759355698 |
217 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA354013586 rs1363016574 |
218 | D>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 218 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs955942430 CA354013619 |
219 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs764231299 CA2551121 |
219 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs955942430 CA81669853 |
219 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs762078396 CA2551123 |
221 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354013694 rs948555166 |
222 | L>M | No |
ClinGen gnomAD |
|
|
rs11715493 CA2551126 |
223 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374056654 CA2551127 |
225 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1427516463 CA354013997 |
227 | N>K | No |
ClinGen TOPMed |
|
|
rs148174381 CA2551128 |
227 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1215590712 CA354014013 |
228 | V>I | No |
ClinGen gnomAD |
|
|
CA81669905 rs935162780 |
229 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA354014082 rs935162780 |
229 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2551130 rs187488656 |
233 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354014242 rs1183814921 |
235 | G>D | No |
ClinGen TOPMed |
|
|
rs747792969 CA2551131 |
237 | C>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 237 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1470144873 CA354014345 |
238 | S>R | No |
ClinGen gnomAD |
|
|
rs758195616 CA81669928 |
241 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2551132 rs758195616 |
241 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 242 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746519400 CA2551134 |
242 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs142017149 CA2551135 |
244 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs891010005 CA81669958 |
245 | G>W | No |
ClinGen TOPMed |
No associated diseases with Q495A1
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell surface | The external part of the cell wall and/or plasma membrane. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| signaling receptor binding | Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of interleukin-12 production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-12 production. |
| negative regulation of T cell activation | Any process that stops, prevents, or reduces the frequency, rate or extent of T cell activation. |
| positive regulation of interleukin-10 production | Any process that activates or increases the frequency, rate, or extent of interleukin-10 production. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRWCLLLIWA | QGLRQAPLAS | GMMTGTIETT | GNISAEKGGS | IILQCHLSST | TAQVTQVNWE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QQDQLLAICN | ADLGWHISPS | FKDRVAPGPG | LGLTLQSLTV | NDTGEYFCIY | HTYPDGTYTG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RIFLEVLESS | VAEHGARFQI | PLLGAMAATL | VVICTAVIVV | VALTRKKKAL | RIHSVEGDLR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RKSAGQEEWS | PSAPSPPGSC | VQAEAAPAGL | CGEQRGEDCA | ELHDYFNVLS | YRSLGNCSFF |
| TETG |