Q8IV04
PR
Gene name |
TBC1D10C |
Protein name |
Carabin |
Names |
TBC1 domain family member 10C |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:374403 |
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
1 structures for Q8IV04
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8IV04-F1 | Predicted | AlphaFoldDB |
426 variants for Q8IV04
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA381539475 rs1224923034 |
3 | Q>R | No |
ClinGen TOPMed |
|
|
CA6137098 rs367984409 |
5 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771679989 CA6137099 |
6 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1321806148 CA381539593 |
10 | V>M | No |
ClinGen gnomAD |
|
|
rs751665522 CA381539654 |
14 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1356778671 CA381539659 |
14 | E>G | No |
ClinGen TOPMed |
|
|
rs751665522 CA6137106 |
14 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA381539673 rs1327374231 |
16 | Q>K | No |
ClinGen TOPMed |
|
|
CA381539697 rs1217034548 |
17 | D>G | No |
ClinGen gnomAD |
|
|
CA381539716 rs1409905879 |
18 | D>N | No |
ClinGen TOPMed |
|
|
CA224153524 rs1037112343 |
21 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs767811572 CA6137109 |
22 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs148408200 CA6137112 |
25 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148408200 CA6137111 |
25 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144990821 CA6137113 |
28 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs144990821 CA6137114 |
28 | L>I | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 29 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1457886017 CA381539951 |
30 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1367204140 CA381539947 |
30 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs889607881 CA224153545 |
31 | P>S | No |
ClinGen TOPMed |
|
|
CA224153546 rs376864761 |
32 | G>R | No |
ClinGen ESP gnomAD |
|
|
rs747614693 CA6137116 |
35 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs543229828 CA6137117 |
35 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1320929522 CA381540040 |
36 | Q>* | No |
ClinGen TOPMed |
|
|
CA6137118 rs777348188 |
37 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6137120 rs767167652 |
38 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs371478822 CA6137122 |
39 | R>C | Variant assessed as Somatic; 4.686e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6137123 rs769737361 |
39 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA224153565 rs999499712 |
43 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs201269302 CA6137125 |
43 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767722018 CA6137126 |
45 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs773502116 CA6137127 |
46 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6137128 rs147597470 |
51 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs967740401 CA224153884 |
52 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs967740401 CA381541163 |
52 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA381541156 rs1475816174 |
52 | P>T | No |
ClinGen TOPMed |
|
|
rs1446667769 CA381541179 |
53 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 55 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381541200 rs1369480489 |
55 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 55 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299502085 CA381541230 |
57 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1490819256 CA381541256 |
60 | I>V | No |
ClinGen TOPMed |
|
|
CA6137149 rs766594322 |
61 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6137151 rs201081455 |
63 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147100387 CA6137150 |
63 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1247602243 CA381541360 |
66 | K>R | No |
ClinGen gnomAD |
|
|
CA381541387 rs1565125881 |
67 | W>* | No |
ClinGen Ensembl |
|
|
CA381541440 rs1489686005 |
70 | M>L | No |
ClinGen gnomAD |
|
|
CA381541456 rs1189062748 |
71 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs151087425 CA6137152 |
72 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA224153908 rs1057164692 |
72 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1420927465 CA381541527 |
74 | W>L | No |
ClinGen gnomAD |
|
|
CA381541550 rs1323409936 |
75 | E>Q | No |
ClinGen TOPMed |
|
|
rs753123862 CA6137153 |
78 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381541698 rs1398677039 |
79 | S>F | No |
ClinGen TOPMed |
|
|
rs764633775 CA6137155 |
80 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758893581 CA6137154 |
80 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224153910 rs775223689 |
81 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6137156 rs565585080 |
81 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381541766 rs1280097258 |
83 | K>E | No |
ClinGen gnomAD |
|
|
CA381542011 rs1590944002 |
85 | V>G | No |
ClinGen Ensembl |
|
|
rs1451023199 CA381541981 |
85 | V>I | No |
ClinGen gnomAD |
|
|
rs1378340253 CA381542015 |
86 | K>E | No |
ClinGen gnomAD |
|
|
CA381542028 rs1242740209 |
86 | K>N | No |
ClinGen gnomAD |
|
|
CA381542062 rs1240000316 |
88 | Q>* | No |
ClinGen TOPMed |
|
|
rs753658396 CA6137180 |
90 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6137179 COSM1356392 rs141022722 |
90 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA6137182 rs754853858 |
92 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA224154055 rs1000494452 |
94 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6137183 rs778849904 |
94 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1176532769 CA381542271 |
97 | L>V | No |
ClinGen gnomAD |
|
|
rs772110517 CA6137185 |
98 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6137186 rs781115515 |
98 | R>H | Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6137188 COSM931059 rs750006848 |
99 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA224154082 rs929189851 |
100 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA381542312 rs929189851 |
100 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1336218259 CA381542315 |
100 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA224154085 rs1047619779 |
101 | C>G | No |
ClinGen Ensembl |
|
|
rs1296135757 CA381542337 |
102 | W>* | No |
ClinGen TOPMed |
|
|
CA381542344 rs1401643353 |
102 | W>* | No |
ClinGen gnomAD |
|
|
rs766976779 CA224154088 |
102 | W>R | No |
ClinGen Ensembl |
|
|
CA381542367 rs1327187459 |
104 | L>R | No |
ClinGen gnomAD |
|
|
CA381542400 rs1276283646 |
107 | G>R | No |
ClinGen gnomAD |
|
|
rs763253067 CA6137191 |
108 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA224154102 rs867453385 |
109 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 109 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6137194 rs762222657 |
110 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs376382959 CA6137193 |
110 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376382959 CA224154118 |
110 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1017323463 CA224154124 |
111 | C>W | No |
ClinGen gnomAD |
|
|
CA381542464 rs1249487957 |
112 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA381542460 rs1249487957 |
112 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA381542470 rs1451990535 |
113 | K>* | No |
ClinGen gnomAD |
|
|
rs1248647516 CA381542509 CA381542507 |
114 | N>K | No |
ClinGen gnomAD |
|
|
CA381542514 rs1479612378 |
115 | S>G | No |
ClinGen gnomAD |
|
|
CA381542530 rs749883666 |
116 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs760305095 CA6137197 |
116 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs749883666 CA381542532 |
116 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs749883666 CA6137196 |
116 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1166683749 CA381542550 |
117 | G>D | No |
ClinGen gnomAD |
|
|
CA381542569 rs1387680401 |
119 | Y>C | No |
ClinGen gnomAD |
|
|
rs1396173726 CA381542563 |
119 | Y>H | No |
ClinGen gnomAD |
|
|
rs1326008793 CA381542586 |
120 | Q>R | No |
ClinGen gnomAD |
|
|
CA381542635 rs1304809218 |
121 | E>V | No |
ClinGen TOPMed |
|
|
CA6137217 rs141974788 |
122 | L>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6137218 rs764985488 |
123 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1456360789 CA381542692 |
125 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 125 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 126 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6137220 rs758243807 |
132 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1286968911 CA381542833 |
132 | M>L | No |
ClinGen gnomAD |
|
|
rs763888603 CA6137221 |
133 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381542868 rs1429897978 |
133 | E>V | No |
ClinGen TOPMed |
|
|
rs779597357 CA224154186 |
135 | I>M | No |
ClinGen TOPMed |
|
|
CA381543009 rs1185978807 |
140 | H>P | No |
ClinGen gnomAD |
|
|
rs780104141 COSM429706 CA6137224 |
141 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 142 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA224154192 rs978016921 |
144 | P>R | No |
ClinGen Ensembl |
|
|
rs1451260837 CA381543102 |
144 | P>S | No |
ClinGen gnomAD |
|
|
CA381543136 rs1402306861 |
146 | H>Q | No |
ClinGen gnomAD |
|
|
CA6137226 rs138351685 |
148 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1312870899 CA381543176 |
149 | F>C | No |
ClinGen gnomAD |
|
|
CA381543174 rs1312870899 |
149 | F>S | No |
ClinGen gnomAD |
|
|
rs779239515 CA6137227 |
150 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6137229 rs772510609 |
151 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237165886 CA381543212 COSM1704290 |
152 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA381543225 rs1260160295 |
153 | Q>R | No |
ClinGen gnomAD |
|
|
rs747511426 CA6137231 |
154 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs866168203 CA224154213 |
154 | G>D | No |
ClinGen TOPMed |
|
|
rs747511426 CA6137232 |
154 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 156 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759125382 CA6137234 |
156 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381543330 rs1441172584 |
158 | Q>* | No |
ClinGen gnomAD |
|
|
rs1293946398 CA381543334 |
158 | Q>L | No |
ClinGen gnomAD |
|
|
CA381543402 rs1590945159 |
163 | V>G | No |
ClinGen Ensembl |
|
|
CA381543399 rs1275680246 |
163 | V>M | No |
ClinGen gnomAD |
|
|
rs1306315463 CA381543409 |
164 | L>V | No |
ClinGen gnomAD |
|
|
rs142852290 CA6137258 |
165 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1266473243 CA381543425 |
166 | A>T | No |
ClinGen gnomAD |
|
|
rs934847975 CA224154405 |
166 | A>V | No |
ClinGen TOPMed |
|
|
rs1014470549 CA224154412 |
168 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA381543453 rs1267502986 |
169 | L>P | No |
ClinGen gnomAD |
|
|
rs761636938 CA6137260 |
171 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA6137261 rs767406445 |
171 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767406445 CA6137262 |
171 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759478111 CA6137263 |
172 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA381543486 rs1426731675 |
173 | E>D | No |
ClinGen gnomAD |
|
|
CA381543483 rs1367224175 |
173 | E>G | No |
ClinGen gnomAD |
|
|
rs752775577 CA224154444 |
177 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs752775577 CA6137266 |
177 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1272057379 CA381543592 |
178 | Q>* | No |
ClinGen gnomAD |
|
|
rs1360487990 CA381543595 |
178 | Q>R | No |
ClinGen gnomAD |
|
|
CA224154454 rs973839921 |
179 | A>G | No |
ClinGen Ensembl |
|
|
CA224154457 rs778177831 |
183 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6137269 rs778177831 |
183 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs950905040 CA224154463 |
184 | A>S | No |
ClinGen Ensembl |
|
|
CA381543845 rs1219749356 |
189 | M>T | No |
ClinGen gnomAD |
|
|
rs1290545674 CA381543911 |
192 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1290545674 CA381543914 |
192 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs375422640 CA6137270 |
193 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1488441837 CA381543925 |
193 | P>T | No |
ClinGen gnomAD |
|
|
rs866296517 CA224154473 |
194 | E>D | No |
ClinGen gnomAD |
|
|
rs1380692047 CA381544703 |
195 | E>A | No |
ClinGen gnomAD |
|
|
rs748798570 CA6137277 |
196 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748798570 CA381544717 |
196 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405835534 CA381544757 |
201 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA381544768 rs1177310094 |
202 | Q>* | No |
ClinGen gnomAD |
|
|
rs1336745585 CA381544814 |
207 | Y>C | No |
ClinGen gnomAD |
|
|
CA381544822 rs1590946175 |
208 | L>F | No |
ClinGen Ensembl |
|
|
rs1277373754 CA381544829 |
209 | P>S | No |
ClinGen gnomAD |
|
|
CA6137279 rs774026814 |
210 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1264531648 CA381544850 |
211 | Y>C | No |
ClinGen gnomAD |
|
|
rs74706151 CA6137281 |
212 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 213 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA224154716 rs761421405 |
213 | G>R | No |
ClinGen gnomAD |
|
|
rs1238511549 CA381544883 |
215 | H>R | No |
ClinGen gnomAD |
|
|
rs1478970414 CA381544895 |
216 | M>I | No |
ClinGen TOPMed |
|
|
rs1397750911 CA381544914 |
217 | E>V | No |
ClinGen TOPMed |
|
|
rs185899585 CA6137312 |
218 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765786887 CA6137314 |
220 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs929046419 CA224154893 |
220 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs747702029 CA6137317 |
223 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224154921 rs746765849 |
224 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6137319 rs777317954 |
224 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs373065850 CA224154923 |
225 | V>L | No |
ClinGen ESP TOPMed |
|
|
CA6137322 rs776565544 |
227 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1165917135 CA381544972 |
227 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs376310444 CA6137323 |
228 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381544992 rs1590946694 |
230 | L>R | No |
ClinGen Ensembl |
|
|
CA6137326 rs762026669 |
231 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6137325 rs774552691 |
231 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224154951 rs967962454 |
232 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6137327 rs767738919 |
232 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 233 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761616611 CA6137328 |
235 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160989247 CA381545028 |
237 | V>A | No |
ClinGen TOPMed |
|
|
CA6137332 rs373055933 |
237 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6137331 rs373055933 |
237 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs550808976 CA6137333 |
238 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs150801783 CA6137334 |
239 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1220242119 CA381545093 |
242 | Q>* | No |
ClinGen gnomAD |
|
|
rs757865363 CA6137335 |
242 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6137337 rs751174238 |
244 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs757001850 CA6137338 |
245 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs373696431 CA6137340 |
246 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1485294568 CA381545171 |
247 | G>E | No |
ClinGen TOPMed |
|
|
CA381545167 CA6137341 rs377469565 |
247 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6137342 rs780174684 |
249 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381545208 rs1334381395 |
250 | L>V | No |
ClinGen gnomAD |
|
|
CA381545223 rs1350808660 |
251 | Y>H | No |
ClinGen TOPMed |
|
|
rs772060883 CA6137344 |
254 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772060883 CA224155003 |
254 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319005754 CA381545292 |
255 | W>G | No |
ClinGen gnomAD |
|
|
rs1319005754 CA381545287 |
255 | W>R | No |
ClinGen gnomAD |
|
|
CA6137347 rs771245873 |
259 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 261 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375551433 CA6137349 |
262 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA224155050 rs375551433 |
262 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6137350 rs200253978 |
262 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1178186540 CA381545404 |
263 | S>P | No |
ClinGen gnomAD |
|
|
rs1252209525 CA381545446 |
266 | F>L | No |
ClinGen gnomAD |
|
|
rs1180741547 CA381545472 |
268 | T>P | No |
ClinGen gnomAD |
|
|
CA6137353 rs763505240 |
271 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6137354 rs751138763 |
271 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756837298 CA6137355 |
272 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs781033160 CA6137356 |
273 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA381545543 rs1375794452 |
274 | D>N | No |
ClinGen gnomAD |
|
|
rs1474718194 CA381545565 |
275 | A>V | No |
ClinGen TOPMed |
|
|
CA224155064 rs545167200 |
276 | F>C | No |
ClinGen TOPMed |
|
|
CA381545571 rs1389898142 |
276 | F>V | No |
ClinGen gnomAD |
|
|
CA6137357 rs750203252 |
278 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs780083037 CA6137359 |
279 | E>G | No |
ClinGen ExAC |
|
|
CA6137358 rs755997825 |
279 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA381545975 rs1417080986 |
281 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1297900772 CA381546038 |
284 | L>Q | No |
ClinGen TOPMed |
|
|
rs1386086664 CA381546055 |
285 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA381546058 rs1386086664 |
285 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6137385 rs576906702 |
286 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6137386 rs775695502 |
286 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 288 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432058395 CA381546147 |
289 | L>P | No |
ClinGen gnomAD |
|
|
rs201172483 CA6137388 |
292 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774946111 CA6137389 |
293 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367546852 CA6137390 |
293 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381546201 rs1194778090 |
294 | L>M | No |
ClinGen TOPMed |
|
|
rs767141479 CA6137391 |
295 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6137393 rs760393138 |
296 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1470086559 CA381546238 |
297 | G>S | No |
ClinGen TOPMed |
|
|
CA6137395 rs753550059 |
299 | A>T | No |
ClinGen ExAC |
|
|
CA6137396 rs754821458 |
302 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs889506094 CA224155979 |
302 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1244755976 CA381546487 |
303 | G>E | No |
ClinGen gnomAD |
|
|
CA381546512 rs1209759873 |
304 | A>S | No |
ClinGen TOPMed |
|
|
rs1446617655 CA381546517 |
304 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1472798435 CA381546576 |
306 | P>S | No |
ClinGen gnomAD |
|
|
CA6137397 rs765021942 |
307 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381546647 rs1180124298 |
310 | E>K | No |
ClinGen gnomAD |
|
|
rs1565128968 CA381546673 |
311 | T>R | No |
ClinGen Ensembl |
|
|
CA6137399 rs758395996 |
312 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 313 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA224155986 rs865854941 |
313 | G>R | No |
ClinGen Ensembl |
|
|
rs781233756 CA6137400 |
314 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs745996977 CA6137401 |
315 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745996977 CA381546769 |
315 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868018194 CA224155991 |
316 | R>* | No |
ClinGen gnomAD |
|
|
rs756296905 CA6137402 |
316 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6137403 rs780355719 |
317 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381546848 rs1373672884 |
317 | A>V | No |
ClinGen gnomAD |
|
|
CA381546886 rs147560025 |
318 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749566186 CA6137406 |
318 | I>T | No |
ClinGen ExAC |
|
|
rs1281525002 CA381546895 |
319 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6137411 rs772830757 |
320 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381546927 rs770437810 |
320 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6137413 rs770437810 |
320 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772830757 CA6137412 |
320 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs751687887 | 321 | A>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144309458 CA6137416 |
321 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6137417 rs752545514 |
321 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200282604 CA6137419 |
325 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 326 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA224156064 rs554034570 |
329 | M>R | No |
ClinGen 1000Genomes |
|
|
CA381547161 rs1565129106 |
330 | S>T | No |
ClinGen Ensembl |
|
|
rs1590950358 CA381547205 |
331 | Q>R | No |
ClinGen Ensembl |
|
|
CA381547354 rs1225955849 |
333 | H>Y | No |
ClinGen gnomAD |
|
|
CA381547375 rs1430998000 |
334 | S>G | No |
ClinGen TOPMed |
|
|
CA381547393 rs1272732943 |
334 | S>I | No |
ClinGen gnomAD |
|
|
CA224156249 rs1003763599 |
335 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA224156230 rs1003763599 |
335 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1450338532 CA381547436 |
336 | V>M | No |
ClinGen gnomAD |
|
|
rs1033661003 CA224156259 |
338 | S>L | No |
ClinGen gnomAD |
|
|
rs1395705057 CA381547482 |
338 | S>P | No |
ClinGen TOPMed |
|
|
rs775234066 CA6137434 |
340 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404141429 CA381547498 |
340 | R>W | No |
ClinGen TOPMed |
|
|
CA381547513 rs1167165417 |
342 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs202004214 CA6137435 |
344 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381547533 rs1389163921 |
344 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6137437 rs763971156 |
348 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1386106953 CA381547579 |
349 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1387980286 CA381547577 |
349 | Q>R | No |
ClinGen gnomAD |
|
|
rs559566505 CA224156281 |
351 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs751512483 CA6137438 |
354 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs753926362 CA6137441 |
355 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA6137440 rs183224614 |
355 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381547634 rs1209367412 |
356 | S>C | No |
ClinGen gnomAD |
|
|
CA381547635 rs1209367412 |
356 | S>F | No |
ClinGen gnomAD |
|
|
CA6137443 rs551740443 |
357 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1186992446 CA381547642 |
357 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6137445 rs531173208 |
358 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1366397477 CA381547653 |
359 | G>R | No |
ClinGen gnomAD |
|
|
CA381547665 rs1456950730 |
360 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA224156316 rs955247909 |
360 | P>S | No |
ClinGen TOPMed |
|
|
rs955247909 CA381547662 |
360 | P>T | No |
ClinGen TOPMed |
|
|
rs747511276 CA6137447 |
361 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381547673 rs747511276 |
361 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319583660 CA381547679 |
362 | P>L | No |
ClinGen gnomAD |
|
|
CA224156340 rs549834971 |
362 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA224156337 rs549834971 |
362 | P>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA381547684 rs771396666 |
363 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224156355 rs149140675 |
363 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149140675 CA6137449 |
363 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6137448 rs771396666 |
363 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA381547693 rs1565129511 |
364 | P>L | No |
ClinGen Ensembl |
|
|
CA381547707 rs1454920567 |
366 | V>L | No |
ClinGen TOPMed |
|
|
rs912942409 CA224156365 |
367 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1338983604 CA381547717 |
367 | R>H | No |
ClinGen gnomAD |
|
|
CA381547725 rs1261391215 |
368 | L>F | No |
ClinGen gnomAD |
|
|
CA224156378 rs1042505680 |
369 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1462023523 CA381547740 |
370 | G>E | No |
ClinGen gnomAD |
|
|
rs1344791009 CA381547737 |
370 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA224156386 rs991016412 |
371 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1422953469 CA381547767 |
373 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA224156395 rs1055773063 |
374 | I>V | No |
ClinGen Ensembl |
|
|
rs1590951128 CA381547783 |
375 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 376 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381547813 rs1365050549 |
379 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA381547822 rs1199142213 |
380 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA381547828 rs1455537046 |
381 | A>V | No |
ClinGen gnomAD |
|
|
CA224156404 rs916859666 |
383 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA381547841 rs367590638 |
384 | R>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs764659138 CA224156414 |
384 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs764659138 CA224156411 |
384 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs547601086 CA224156418 |
385 | R>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA381547845 rs1300930874 |
385 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA381547847 rs1400252403 |
386 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA381547883 rs1307734119 |
390 | E>K | No |
ClinGen gnomAD |
|
|
rs1288249331 CA381547925 |
393 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6137454 rs565700309 |
393 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6137455 rs774200189 |
394 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1482694268 CA381547986 |
398 | P>S | No |
ClinGen gnomAD |
|
|
CA6137458 rs377716251 |
399 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6137457 rs539626954 |
399 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381548023 rs1429899979 |
401 | E>A | No |
ClinGen gnomAD |
|
|
CA381548031 rs1311944071 |
401 | E>D | No |
ClinGen TOPMed |
|
|
CA381548017 rs1590951281 |
401 | E>K | No |
ClinGen Ensembl |
|
|
CA381548026 rs1429899979 |
401 | E>V | No |
ClinGen gnomAD |
|
|
rs200275379 CA6137462 |
403 | R>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200275379 CA224156459 |
403 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758757156 CA6137463 |
404 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs751915284 CA6137466 |
405 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751915284 CA6137465 |
405 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201468519 CA6137464 |
405 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6137468 rs745333547 |
406 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745333547 CA381548085 |
406 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201488188 CA6137467 |
406 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779615548 CA6137470 |
407 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6137469 rs755592883 |
407 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1442600105 CA381548119 |
408 | K>R | No |
ClinGen gnomAD |
|
|
CA381548130 rs1311940676 |
409 | P>S | No |
ClinGen gnomAD |
|
|
CA381548129 rs1311940676 |
409 | P>T | No |
ClinGen gnomAD |
|
|
CA6137471 rs748936871 |
412 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768357499 CA6137472 |
412 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747936109 CA6137474 |
413 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs990186898 CA224156493 |
413 | G>S | Variant assessed as Somatic; 6.305e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6137475 rs772010052 |
416 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381548287 rs772010052 |
416 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6137476 rs772010052 |
416 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424426065 CA381548303 |
417 | H>R | No |
ClinGen gnomAD |
|
|
rs1189432788 CA381548297 |
417 | H>Y | No |
ClinGen gnomAD |
|
|
rs1170322168 CA381548336 |
419 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6137477 rs371193264 |
420 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6137478 rs765399073 |
420 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765399073 CA381548347 |
420 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs912912809 CA224156504 |
421 | T>I | No |
ClinGen Ensembl |
|
|
CA6137481 rs763243235 |
422 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751910113 CA381548368 |
422 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6137482 rs751910113 |
422 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763243235 CA6137480 |
422 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292267093 CA381548373 |
423 | A>T | No |
ClinGen gnomAD |
|
|
CA381548392 rs200238089 |
424 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200238089 CA6137484 |
424 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199697725 CA6137483 |
424 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 425 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6137487 rs750899662 |
425 | G>D | No |
ClinGen ExAC |
|
|
rs1300271553 CA381548445 |
426 | P>L | No |
ClinGen gnomAD |
|
|
CA381548417 rs1362856424 |
426 | P>T | No |
ClinGen TOPMed |
|
|
rs779527591 CA6137489 |
427 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs756681324 CA6137488 |
427 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756681324 CA224156512 |
427 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs756043635 | 428 | I>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381548476 rs778465051 |
428 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs756043635 | 428 | I>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6137492 rs778465051 |
428 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6137495 rs771780848 |
429 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6137494 rs771780848 |
429 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1190199090 CA381548526 |
430 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746903775 CA381548540 |
431 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1055338188 CA381548546 |
431 | P>H | No |
ClinGen gnomAD |
|
|
rs1055338188 CA224156547 |
431 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746903775 CA6137499 |
431 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224156552 rs540846901 |
432 | P>S | No |
ClinGen gnomAD |
|
|
CA381548563 rs540846901 |
432 | P>T | No |
ClinGen gnomAD |
|
|
rs775677767 CA6137501 |
434 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA381548621 rs1407138625 |
434 | P>S | No |
ClinGen gnomAD |
|
|
CA224156559 rs1024275311 |
436 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6137502 rs573793681 |
436 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768950129 CA6137503 |
437 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6137504 rs774449245 |
439 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6137505 rs762170515 |
441 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs750858467 TCGA novel CA6137507 |
443 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs767769807 CA6137506 |
443 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6137509 rs766913979 |
444 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA6137511 rs766920321 |
445 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs187596918 CA6137512 |
445 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752283117 CA6137513 |
446 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1590951738 CA381548918 |
446 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 447 | F>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q8IV04
1 regional properties for Q8IV04
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Rab-GAP-TBC domain | 89 - 303 | IPR000195 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| ficolin-1-rich granule membrane | The lipid bilayer surrounding a ficolin-1-rich granule. |
| filopodium membrane | The portion of the plasma membrane surrounding a filopodium. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of GTPase activity | Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP. |
| B cell activation | The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. |
| calcineurin-NFAT signaling cascade | Any intracellular signal transduction in which the signal is passed on within the cell by activation of a member of the NFAT protein family as a consequence of NFAT dephosphorylation by Ca(2+)-activated calcineurin. The cascade begins with calcium-dependent activation of the phosphatase calcineurin. Calcineurin dephosphorylates multiple phosphoserine residues on NFAT, resulting in the translocation of NFAT to the nucleus. The cascade ends with regulation of transcription by NFAT. The calcineurin-NFAT cascade lies downstream of many cell surface receptors, including G protein-coupled receptors (GPCRs) and receptor tyrosine kinases (RTKs) that signal to mobilize calcium ions (Ca2+). |
| ERK1 and ERK2 cascade | An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade may involve 4 different kinases, as it can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. |
| negative regulation of B cell activation | Any process that stops, prevents, or reduces the frequency, rate or extent of B cell activation. |
| negative regulation of calcineurin-NFAT signaling cascade | Any process that stops, prevents, or reduces the frequency, rate or extent of the calcineurin-NFAT signaling cascade. |
| negative regulation of ERK1 and ERK2 cascade | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| retrograde transport, endosome to Golgi | The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport. |
27 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A0A087X1G2 | TBC1D3K | TBC1 domain family member 3K | Homo sapiens (Human) | PR |
| B9A6J9 | TBC1D3L | TBC1 domain family member 3L | Homo sapiens (Human) | PR |
| Q8WUA7 | TBC1D22A | TBC1 domain family member 22A | Homo sapiens (Human) | PR |
| Q8IZP1 | TBC1D3 | TBC1 domain family member 3 | Homo sapiens (Human) | PR |
| Q6IPX1 | TBC1D3C | TBC1 domain family member 3C | Homo sapiens (Human) | PR |
| A0A087WVF3 | TBC1D3D | TBC1 domain family member 3D | Homo sapiens (Human) | PR |
| A6NER0 | TBC1D3F | TBC1 domain family member 3F | Homo sapiens (Human) | PR |
| A0A087WXS9 | TBC1D3I | TBC1 domain family member 3I | Homo sapiens (Human) | PR |
| Q6DHY5 | TBC1D3G | TBC1 domain family member 3G | Homo sapiens (Human) | PR |
| A0A087X179 | TBC1D3E | TBC1 domain family member 3E | Homo sapiens (Human) | PR |
| P0C7X1 | TBC1D3H | TBC1 domain family member 3H | Homo sapiens (Human) | PR |
| A6NDS4 | TBC1D3B | TBC1 domain family member 3B | Homo sapiens (Human) | PR |
| Q5TC63 | GRTP1 | Growth hormone-regulated TBC protein 1 | Homo sapiens (Human) | PR |
| O60343 | TBC1D4 | TBC1 domain family member 4 | Homo sapiens (Human) | PR |
| Q86TI0 | TBC1D1 | TBC1 domain family member 1 | Homo sapiens (Human) | PR |
| O60447 | EVI5 | Ecotropic viral integration site 5 protein homolog | Homo sapiens (Human) | PR |
| Q3MII6 | TBC1D25 | TBC1 domain family member 25 | Homo sapiens (Human) | PR |
| Q2NKQ1 | SGSM1 | Small G protein signaling modulator 1 | Homo sapiens (Human) | PR |
| Q9HA65 | TBC1D17 | TBC1 domain family member 17 | Homo sapiens (Human) | PR |
| Q8TC07 | TBC1D15 | TBC1 domain family member 15 | Homo sapiens (Human) | PR |
| O95759 | TBC1D8 | TBC1 domain family member 8 | Homo sapiens (Human) | PR |
| Q0IIM8 | TBC1D8B | TBC1 domain family member 8B | Homo sapiens (Human) | PR |
| Q66K14 | TBC1D9B | TBC1 domain family member 9B | Homo sapiens (Human) | PR |
| Q6ZT07 | TBC1D9 | TBC1 domain family member 9 | Homo sapiens (Human) | PR |
| Q8TEA7 | TBCK | TBC domain-containing protein kinase-like protein | Homo sapiens (Human) | PR |
| Q9UPU7 | TBC1D2B | TBC1 domain family member 2B | Homo sapiens (Human) | PR |
| Q8C9V1 | Tbc1d10c | Carabin | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAQALGEDLV | QPPELQDDSS | SLGSDSELSG | PGPYRQADRY | GFIGGSSAEP | GPGHPPADLI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RQREMKWVEM | TSHWEKTMSR | RYKKVKMQCR | KGIPSALRAR | CWPLLCGAHV | CQKNSPGTYQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ELAEAPGDPQ | WMETIGRDLH | RQFPLHEMFV | SPQGHGQQGL | LQVLKAYTLY | RPEQGYCQAQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GPVAAVLLMH | LPPEEAFWCL | VQICEVYLPG | YYGPHMEAVR | LDAEVFMALL | RRLLPHVHKH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LQQVGVGPLL | YLPEWFLCLF | ARSLPFPTVL | RVWDAFLSEG | ARVLFRVGLT | LVRLALGTAE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QRGACPGLLE | TLGALRAIPP | AQLQEEAFMS | QVHSVVLSER | DLQREIKAQL | AQLPDSAPGP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PPRPQVRLAG | AQAIFEAQQL | AGVRRGAKPE | VPRIVVQPPE | EPRPPRRKPQ | TRGKTFHGLL |
| 430 | 440 | ||||
| TRARGPPIEG | PPRPQRGSTS | FLDTRF |