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 Q96C34
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96C34-F1 | Predicted | AlphaFoldDB |
495 variants for Q96C34
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs864622034 CA350489 RCV000206459 |
289 | G>A | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs562961994 CA8588515 |
3 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs945576436 CA290809288 |
3 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8588516 rs17853899 |
4 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_031760 rs17853899 CA290809293 |
4 | V>I | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs372920205 CA290809301 |
5 | E>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8588517 rs746367589 |
5 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs199576891 CA290809304 |
6 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8588518 rs770339301 |
6 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8588519 rs199576891 |
6 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs530398987 CA8588520 |
7 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399662083 rs530398987 |
7 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1278647266 CA399662090 |
7 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA399662106 rs1187720915 |
8 | A>T | No |
ClinGen TOPMed |
|
|
CA8588521 rs764334670 |
8 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8588524 rs376633797 |
9 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1283184177 CA399662126 |
9 | E>G | No |
ClinGen gnomAD |
|
|
CA8588522 rs774457362 |
9 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs750311395 CA8588525 |
10 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs201536677 CA8588526 |
10 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201536677 CA399662145 |
10 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201536677 CA8588527 |
10 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8588528 rs753362536 |
11 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1191597359 CA399662154 |
11 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA290809340 rs1049018389 |
12 | T>M | No |
ClinGen gnomAD |
|
|
CA8588529 rs754479522 |
13 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328031750 CA399662231 |
16 | A>D | No |
ClinGen gnomAD |
|
|
rs1567727400 CA399662226 |
16 | A>T | No |
ClinGen Ensembl |
|
|
CA8588531 rs752347491 |
17 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 20 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8588533 rs781518919 |
23 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1037379804 CA290809375 |
24 | E>K | No |
ClinGen gnomAD |
|
|
rs746277478 CA8588536 |
25 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399662355 rs1348131839 |
25 | E>G | No |
ClinGen gnomAD |
|
|
CA399662346 rs1173468563 |
25 | E>K | No |
ClinGen TOPMed |
|
|
CA399662365 rs1567727443 |
26 | E>K | No |
ClinGen Ensembl |
|
|
rs1003348614 CA290809391 |
27 | E>K | No |
ClinGen TOPMed |
|
|
rs749337848 CA8588538 |
28 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA399662414 rs1211265169 |
28 | E>V | No |
ClinGen gnomAD |
|
|
rs865978432 CA290809406 |
29 | E>G | No |
ClinGen Ensembl |
|
|
rs1033529538 CA290809399 |
29 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 33 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768630844 CA8588539 |
33 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs774568055 CA8588540 |
34 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8588541 rs774568055 |
34 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399662498 rs1471740481 |
34 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399662496 rs1471740481 |
34 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA399662510 rs1461038593 |
35 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs773119716 CA8588543 |
36 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1317288111 CA399662579 |
39 | R>P | No |
ClinGen TOPMed |
|
|
CA8588544 rs369316147 |
39 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8588545 rs766304000 |
41 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342244925 CA399662633 |
42 | P>S | No |
ClinGen gnomAD |
|
|
rs1334282946 CA399662644 |
43 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1334282946 CA399662643 |
43 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA399662668 rs1333678635 |
44 | G>A | No |
ClinGen gnomAD |
|
|
rs1333678635 CA399662665 |
44 | G>E | No |
ClinGen gnomAD |
|
|
CA8588547 rs759031445 |
44 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399662662 rs759031445 |
44 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752259638 CA8588549 |
46 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399662742 rs1195097040 |
49 | A>D | No |
ClinGen gnomAD |
|
|
CA8588551 rs777439485 |
51 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750745524 CA8588552 |
52 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1445196200 CA399662801 |
54 | T>A | No |
ClinGen TOPMed |
|
|
CA399662806 rs1353113393 |
54 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA399662857 rs1474982417 |
57 | L>F | No |
ClinGen gnomAD |
|
|
rs144065038 CA8588553 |
60 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144065038 CA399662914 |
60 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399662916 rs1459016017 |
61 | T>A | No |
ClinGen TOPMed |
|
|
rs1374810891 CA399662924 |
61 | T>R | No |
ClinGen gnomAD |
|
|
rs1167915605 CA399662935 |
62 | A>V | No |
ClinGen gnomAD |
|
|
rs1417066993 CA399662941 |
63 | E>K | No |
ClinGen gnomAD |
|
|
CA399662980 rs1354460517 |
64 | E>D | No |
ClinGen gnomAD |
|
|
CA399662966 rs1313838094 |
64 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1393880124 CA399662990 |
65 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA290809518 rs1043060947 |
66 | G>S | No |
ClinGen TOPMed |
|
|
rs1381929739 CA399663016 |
67 | A>T | No |
ClinGen TOPMed |
|
|
CA399663026 rs1297116664 |
67 | A>V | No |
ClinGen gnomAD |
|
|
CA8588554 rs28584166 |
68 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8588555 rs749764412 |
69 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA399663069 rs1249601042 |
70 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1249601042 CA399663067 |
70 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs974858698 CA290809538 |
72 | P>R | No |
ClinGen Ensembl |
|
|
CA399663110 rs1597749619 |
73 | P>R | No |
ClinGen Ensembl |
|
|
CA399663115 rs1485477871 |
74 | D>N | No |
ClinGen gnomAD |
|
|
CA399663121 rs1485477871 |
74 | D>Y | No |
ClinGen gnomAD |
|
|
rs1264118777 CA399663160 |
76 | P>L | No |
ClinGen gnomAD |
|
|
CA399663183 rs1192535259 |
78 | R>Q | No |
ClinGen gnomAD |
|
|
CA399663224 rs1236147947 |
81 | R>L | No |
ClinGen gnomAD |
|
|
CA399663258 rs1244323715 |
84 | R>Q | No |
ClinGen TOPMed |
|
|
CA399663292 rs1317807094 |
87 | R>W | No |
ClinGen TOPMed |
|
|
CA399663297 rs1437080213 |
88 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1385431323 CA399663352 |
91 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs900259583 CA290809558 |
92 | S>W | No |
ClinGen TOPMed |
|
|
CA399663447 rs1464234215 |
98 | S>F | No |
ClinGen gnomAD |
|
|
CA399663586 rs1373132698 |
107 | R>C | No |
ClinGen gnomAD |
|
|
CA399663611 rs1234862261 |
109 | R>P | No |
ClinGen gnomAD |
|
|
rs1395545589 CA399663621 |
110 | Q>* | No |
ClinGen TOPMed |
|
|
CA399663640 rs1302423305 |
111 | V>M | No |
ClinGen gnomAD |
|
|
rs1217663502 CA399663655 |
112 | V>L | No |
ClinGen gnomAD |
|
|
rs1200917007 CA399663672 |
113 | R>G | No |
ClinGen TOPMed |
|
|
rs1200917007 CA399663670 |
113 | R>S | No |
ClinGen TOPMed |
|
|
CA399663685 rs1486300295 CA399663682 |
114 | G>R | No |
ClinGen gnomAD |
|
|
CA399663710 rs1246212268 |
115 | A>E | No |
ClinGen gnomAD |
|
|
rs773602396 CA8588560 |
115 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1246212268 CA399663705 |
115 | A>V | No |
ClinGen gnomAD |
|
|
rs1431432164 CA399663725 |
116 | P>L | No |
ClinGen TOPMed |
|
|
rs1455976794 CA399663738 |
117 | A>E | No |
ClinGen gnomAD |
|
|
CA399663769 rs1395004204 |
119 | Q>* | No |
ClinGen gnomAD |
|
|
rs760501540 CA8588561 |
120 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA399663789 rs1449904351 |
120 | Q>R | No |
ClinGen gnomAD |
|
|
CA290809584 rs550864158 |
121 | R>G | No |
ClinGen 1000Genomes |
|
|
CA399663805 rs770648532 |
121 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8588562 rs770648532 |
121 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345458782 CA399663815 |
122 | L>F | No |
ClinGen gnomAD |
|
|
CA399663828 rs1452550054 |
123 | L>P | No |
ClinGen gnomAD |
|
|
rs1452550054 CA399663830 |
123 | L>Q | No |
ClinGen gnomAD |
|
|
CA399663835 rs1441002706 |
124 | R>Q | No |
ClinGen gnomAD |
|
|
rs1395954253 CA399663832 |
124 | R>W | No |
ClinGen gnomAD |
|
|
CA399663841 rs1302653478 |
125 | E>K | No |
ClinGen gnomAD |
|
|
CA399663842 rs1302653478 |
125 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 125 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1376358453 CA399663862 |
126 | L>V | No |
ClinGen gnomAD |
|
|
rs1488721988 CA399663884 |
127 | E>G | No |
ClinGen TOPMed |
|
|
rs759373874 CA8588564 |
130 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs765265688 CA8588565 |
132 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399664073 rs1487772251 |
138 | L>P | No |
ClinGen gnomAD |
|
|
CA8588568 rs552222 |
138 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1010650507 CA290809648 |
141 | E>K | No |
ClinGen Ensembl |
|
|
rs1418156446 CA399664131 |
142 | G>R | No |
ClinGen gnomAD |
|
|
rs751226206 CA8588570 |
143 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs766648925 CA8588572 |
145 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 145 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 146 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399664217 rs1324600452 |
147 | A>S | No |
ClinGen gnomAD |
|
|
CA399664224 rs1348085641 |
147 | A>V | No |
ClinGen gnomAD |
|
|
CA399664228 rs1597750268 |
148 | S>G | No |
ClinGen Ensembl |
|
|
rs754286789 CA8588573 |
150 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399664293 rs1243392119 |
151 | G>D | No |
ClinGen gnomAD |
|
|
CA399664307 rs1372256970 |
152 | D>Y | No |
ClinGen gnomAD |
|
|
rs1286753903 CA399664332 |
153 | G>E | No |
ClinGen gnomAD |
|
|
rs1234017320 CA399664341 |
154 | L>M | No |
ClinGen gnomAD |
|
|
rs1289185157 CA399664352 |
155 | P>S | No |
ClinGen gnomAD |
|
|
CA8588575 rs755420359 |
156 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399664370 rs1320463144 |
156 | G>R | No |
ClinGen gnomAD |
|
|
CA399664396 rs1259233124 |
157 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA399664392 rs1180444666 |
157 | D>G | No |
ClinGen gnomAD |
|
|
rs779605527 CA8588576 |
157 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA399664382 rs779605527 |
157 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA290809697 rs781273982 |
160 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA8588580 rs747204117 |
160 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1708875 CA8588579 |
160 | W>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399664430 rs747204117 |
160 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_031761 CA8588578 rs1708875 |
160 | W>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA399664452 rs1478201702 |
162 | R>G | No |
ClinGen TOPMed |
|
|
rs771239383 CA8588581 |
162 | R>Q | No |
ClinGen ExAC |
|
|
CA8588582 rs776264058 |
163 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1191773713 CA399664474 |
163 | G>V | No |
ClinGen TOPMed |
|
|
CA290809725 rs760923216 |
165 | D>E | No |
ClinGen TOPMed |
|
|
rs1357634094 CA399664509 |
166 | Q>* | No |
ClinGen gnomAD |
|
|
CA399666513 rs1567730964 |
169 | Q>E | No |
ClinGen Ensembl |
|
| TCGA novel | 169 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567730974 CA399666532 |
171 | K>R | No |
ClinGen Ensembl |
|
|
CA8588600 rs781505914 |
172 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA399666558 CA399666559 rs369497685 |
173 | E>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8588601 rs745600074 |
173 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399666555 rs1432982610 |
173 | E>V | No |
ClinGen gnomAD |
|
|
rs769587764 CA8588602 |
174 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs34886583 COSM1383487 CA8588603 |
174 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs769587764 CA399666561 |
174 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399666576 rs1273398453 |
175 | L>Q | No |
ClinGen gnomAD |
|
|
rs1567731001 CA399666615 |
178 | Q>* | No |
ClinGen Ensembl |
|
|
rs377394528 CA8588604 |
182 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377394528 CA290812863 |
182 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA290812868 rs200463952 |
182 | Q>R | No |
ClinGen 1000Genomes |
|
|
CA290812872 rs766280856 |
186 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8588605 rs768638303 |
187 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8588608 rs370774883 |
190 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772942848 CA8588609 |
195 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8588611 rs765705110 |
198 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1382829140 CA399666911 |
204 | G>S | No |
ClinGen Ensembl |
|
|
rs763528529 CA8588613 |
205 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA399666957 rs1597757073 |
207 | D>A | No |
ClinGen Ensembl |
|
|
rs199867848 CA8588614 |
208 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 210 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399667011 rs1322000932 |
211 | Q>R | No |
ClinGen gnomAD |
|
|
CA8588617 rs371790855 |
213 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287387316 CA399667045 |
214 | V>L | No |
ClinGen gnomAD |
|
|
CA8588619 rs756395019 |
219 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750660231 CA8588618 |
219 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1272286639 CA399667268 |
220 | V>L | No |
ClinGen TOPMed |
|
|
CA399667299 rs1357171445 |
222 | I>M | No |
ClinGen TOPMed |
|
|
CA8588634 rs767630340 |
223 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1190246248 CA399667302 |
223 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 223 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8588635 rs750524899 |
225 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375318685 CA399667350 |
227 | K>N | No |
ClinGen gnomAD |
|
|
rs368796436 CA8588636 |
227 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382423338 CA399667385 |
230 | D>E | No |
ClinGen TOPMed |
|
|
CA8588637 rs780295121 |
230 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs902124755 CA290813793 |
232 | N>H | No |
ClinGen TOPMed |
|
|
CA8588638 rs753592981 |
232 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs996805079 CA290813805 |
234 | N>I | No |
ClinGen TOPMed |
|
|
CA290813807 rs55637973 |
236 | D>G | No |
ClinGen Ensembl |
|
|
rs1353232384 CA399667447 |
236 | D>N | No |
ClinGen TOPMed |
|
|
rs546662271 CA8588639 |
238 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399667477 rs1375862340 |
238 | S>T | No |
ClinGen gnomAD |
|
|
CA399667496 rs1405391230 |
240 | L>V | No |
ClinGen TOPMed |
|
|
CA399667510 rs1415367575 |
241 | S>C | No |
ClinGen TOPMed |
|
|
CA399667538 rs1393831220 |
244 | E>K | No |
ClinGen gnomAD |
|
|
CA8588640 rs778661306 |
246 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8588641 rs748123180 |
246 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8588642 rs757868579 |
247 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375224265 CA8588643 |
247 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149556177 CA8588645 |
248 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371936857 CA8588646 |
248 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371936857 CA290813832 |
248 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1452185201 CA399667588 |
249 | V>L | No |
ClinGen TOPMed |
|
|
rs749603489 CA8588647 |
250 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs769067964 CA399667613 |
251 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA8588648 rs769067964 |
251 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs774644242 CA8588649 |
254 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 254 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399667637 rs1292136662 |
255 | Q>E | No |
ClinGen TOPMed |
|
|
rs1188562656 CA399667640 |
255 | Q>R | No |
ClinGen gnomAD |
|
|
rs762368564 CA399667650 |
256 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243950057 CA399667648 |
256 | I>T | No |
ClinGen TOPMed |
|
|
CA399667654 rs1279444210 |
257 | V>A | No |
ClinGen TOPMed |
|
|
rs202076807 CA8588651 |
257 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177200803 CA399667656 |
258 | N>H | No |
ClinGen gnomAD |
|
|
rs773245859 CA8588652 |
258 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399667668 rs1464183022 |
259 | P>A | No |
ClinGen gnomAD |
|
|
rs760776472 CA8588653 |
261 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760776472 CA399667686 |
261 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8588654 rs568593311 |
261 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs568593311 CA399667689 |
261 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs961750871 CA290813913 |
263 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1423524841 CA399667729 |
265 | Q>R | No |
ClinGen TOPMed |
|
|
rs1597758635 CA399667766 |
268 | E>D | No |
ClinGen Ensembl |
|
|
rs1417043439 CA399667809 |
272 | T>I | No |
ClinGen TOPMed |
|
|
rs1597758650 CA399667815 |
273 | Q>E | No |
ClinGen Ensembl |
|
| TCGA novel | 275 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399667840 rs1406986490 |
275 | R>G | No |
ClinGen TOPMed |
|
|
CA399667850 rs1311841469 |
276 | D>H | No |
ClinGen gnomAD |
|
|
rs375923988 CA8588660 |
277 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 279 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290813944 rs986025728 |
279 | M>K | No |
ClinGen Ensembl |
|
|
rs376014187 CA8588661 |
282 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8588662 rs750828455 |
283 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 284 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472033832 CA399669420 |
287 | E>K | No |
ClinGen gnomAD |
|
|
CA399669460 rs1339573645 |
288 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs146074807 CA8588682 |
288 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8588681 rs146074807 |
288 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8588684 rs755761147 |
290 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA399669510 rs1164072533 |
290 | S>N | No |
ClinGen gnomAD |
|
|
rs1166896440 COSM561092 CA399669573 |
293 | Q>R | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA8588686 rs756553386 |
294 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA399669611 rs1426225571 |
295 | G>D | No |
ClinGen Ensembl |
|
|
rs529320647 CA8588687 |
296 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772338809 CA8588688 CA8588689 |
297 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs747514103 CA8588690 |
298 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs771489843 CA8588691 |
300 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8588692 rs776674954 |
301 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1289848937 CA399669790 |
303 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1289848937 CA399669788 |
303 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8588694 rs375924857 |
304 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399669813 rs1206579673 |
304 | G>V | No |
ClinGen TOPMed |
|
|
CA8588695 rs775585211 |
307 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA399669934 rs1482526966 |
310 | G>S | No |
ClinGen gnomAD |
|
|
CA399669996 rs1202671144 |
312 | S>R | No |
ClinGen gnomAD |
|
|
CA399670031 rs1567732349 |
315 | G>R | No |
ClinGen Ensembl |
|
|
rs763974387 CA399670077 |
317 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763974387 CA8588697 |
317 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8588698 rs200178797 |
319 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1430181673 CA399670171 |
322 | G>E | No |
ClinGen gnomAD |
|
|
CA399670176 rs1244176530 |
323 | N>D | No |
ClinGen TOPMed |
|
|
CA399670188 rs1168998443 |
324 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8588717 rs761730621 |
330 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330674284 CA399670442 |
331 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1384276302 CA399670469 |
332 | K>E | No |
ClinGen gnomAD |
|
|
CA290818775 rs553638883 |
334 | V>A | No |
ClinGen 1000Genomes gnomAD |
|
|
CA399670538 rs572946898 |
335 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8588719 rs572946898 |
335 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8588718 rs199952607 COSM1581617 |
335 | R>W | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1315463552 CA399670564 |
336 | E>D | No |
ClinGen TOPMed |
|
|
CA8588720 rs760167480 |
336 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8588721 rs765805859 |
337 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 339 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597759839 CA399670640 |
340 | H>P | No |
ClinGen Ensembl |
|
|
rs1465576622 CA399670684 |
341 | L>R | No |
ClinGen TOPMed |
|
|
rs757628851 CA8588726 |
342 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399670711 rs200561980 |
343 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA399670718 rs374188538 |
343 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8588727 rs374188538 |
343 | R>Q | Variant assessed as Somatic; 4.635e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA290818799 rs200561980 |
343 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs746353875 CA399670726 |
344 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8588728 rs746353875 |
344 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA290818819 COSM561091 rs756700931 |
345 | A>S | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8588729 rs756700931 |
345 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8588730 rs779974943 |
345 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399670792 rs1228503975 |
347 | A>D | No |
ClinGen gnomAD |
|
|
CA399670773 rs1351915551 |
347 | A>S | No |
ClinGen gnomAD |
|
|
CA399670814 rs774736859 |
348 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8588733 rs774736859 |
348 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211636291 CA399670860 |
350 | Q>H | No |
ClinGen gnomAD |
|
|
rs747894928 CA8588734 |
352 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8588735 rs771998451 |
353 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA8588737 rs760518488 |
355 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290818851 rs572766174 |
356 | Q>* | No |
ClinGen Ensembl |
|
|
rs759857691 CA290818854 |
358 | G>A | No |
ClinGen Ensembl |
|
|
rs867685651 CA290818857 |
360 | A>V | No |
ClinGen Ensembl |
|
|
rs1487230204 CA399671150 |
363 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 363 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399671175 rs1567732682 |
364 | I>F | No |
ClinGen Ensembl |
|
|
rs1340979240 CA399671188 |
364 | I>M | No |
ClinGen TOPMed |
|
|
CA8588738 rs377624220 |
366 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399671264 rs1183008541 |
368 | L>P | No |
ClinGen gnomAD |
|
|
CA399671258 rs1247837882 |
368 | L>V | No |
ClinGen TOPMed |
|
|
CA290818860 rs998085368 |
369 | W>* | No |
ClinGen TOPMed |
|
|
rs759081997 CA8588740 |
370 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1165566728 CA399671447 |
377 | D>Y | No |
ClinGen gnomAD |
|
|
CA8588741 rs764807787 |
378 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8588742 rs752347435 |
380 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399671542 rs1321942859 |
383 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1597760044 CA399671581 |
386 | E>G | No |
ClinGen Ensembl |
|
|
rs61995866 CA8588743 |
386 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1597760056 CA399671596 |
387 | V>G | No |
ClinGen Ensembl |
|
|
rs767757645 CA8588744 |
387 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1597760064 CA399671607 |
388 | S>A | No |
ClinGen Ensembl |
|
|
CA399671627 rs1597760077 |
389 | V>G | No |
ClinGen Ensembl |
|
|
CA8588745 rs544350931 |
392 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780641883 CA8588747 |
396 | A>T | No |
ClinGen ExAC gnomAD |
|
|
VAR_031762 rs17857183 CA290818897 |
397 | L>M | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA8588748 rs749340594 |
397 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1276442771 CA399671777 |
399 | Q>E | No |
ClinGen gnomAD |
|
|
rs1567732870 CA399671790 |
399 | Q>H | No |
ClinGen Ensembl |
|
|
CA8588751 rs779218299 |
401 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA399671842 rs1251340523 |
402 | H>P | No |
ClinGen gnomAD |
|
|
CA8588752 rs748365795 |
403 | D>G | No |
ClinGen ExAC |
|
|
CA399671919 rs1597760154 |
407 | T>P | No |
ClinGen Ensembl |
|
|
CA399671958 rs1164483300 |
409 | A>V | No |
ClinGen TOPMed |
|
|
rs746867708 CA8588756 |
413 | D>V | No |
ClinGen ExAC |
|
|
CA399672050 rs1597760182 |
416 | L>P | No |
ClinGen Ensembl |
|
|
rs770721701 CA8588757 |
418 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs776639410 CA8588758 |
418 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1307080888 CA399672096 |
419 | K>M | No |
ClinGen gnomAD |
|
|
CA399672126 rs1383791435 |
421 | E>K | No |
ClinGen TOPMed |
|
|
CA8588759 rs376046963 |
423 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376046963 CA399672158 |
423 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1016355447 CA290818938 |
423 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 424 | M>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290818939 rs541380741 |
424 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1242438968 CA399672229 |
427 | R>Q | No |
ClinGen gnomAD |
|
|
rs764717095 CA8588760 |
427 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367817542 CA8588762 |
431 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1274236668 CA399672307 |
433 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs761132618 CA8588765 |
434 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs766728617 CA8588766 |
436 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399672354 rs61995864 |
437 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399672394 rs1597760325 |
440 | H>P | No |
ClinGen Ensembl |
|
|
rs758523797 CA8588771 |
444 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8588773 rs746737893 |
447 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770777568 CA8588774 |
449 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1567733152 CA399672547 |
452 | V>I | No |
ClinGen Ensembl |
|
|
rs993120103 CA290818981 |
453 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA290818987 rs368096797 |
453 | M>T | No |
ClinGen ESP TOPMed |
|
|
rs993120103 CA399672556 |
453 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8588775 rs781026704 |
454 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8588776 rs745804067 |
455 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs774960270 CA399672586 |
456 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs774960270 CA8588778 |
456 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs200110770 CA290818995 |
458 | C>G | No |
ClinGen Ensembl |
|
|
CA399672641 rs1256797635 |
461 | P>S | No |
ClinGen gnomAD |
|
|
rs1394614106 CA399672649 |
462 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs745626505 CA8588781 |
465 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290819023 rs200042329 |
467 | P>S | No |
ClinGen gnomAD |
|
|
rs760891071 CA8588782 |
468 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8588784 rs775175952 |
470 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769581002 CA8588783 |
470 | M>V | No |
ClinGen ExAC |
|
|
CA399672739 rs1567733237 |
471 | H>D | No |
ClinGen Ensembl |
|
|
rs760086639 CA8588785 |
472 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA399672815 rs1456586259 |
477 | V>I | No |
ClinGen gnomAD |
|
|
rs1286904779 CA399672833 |
478 | K>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 479 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 479 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399672851 rs1369537450 |
480 | Y>D | No |
ClinGen gnomAD |
|
|
rs140037579 CA8588789 |
481 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370262164 CA399672905 |
484 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8588792 rs780936816 |
485 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs745714064 CA8588793 |
485 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8588794 rs769671401 |
486 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779998361 CA8588795 |
486 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399672942 rs1489697525 |
488 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA8588797 COSM1224394 rs768225556 |
489 | V>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA399672949 rs1266266425 |
489 | V>M | No |
ClinGen gnomAD |
|
|
rs773790878 CA8588798 |
492 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs771660205 CA8588800 COSM284722 |
494 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8588799 rs761520902 |
494 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156897611 CA399672998 |
496 | L>V | No |
ClinGen gnomAD |
|
|
CA399673007 rs1292684683 |
497 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA399673008 rs1292684683 |
497 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA399673004 rs1458250743 |
497 | S>T | No |
ClinGen gnomAD |
|
|
rs1448457413 CA399673020 |
499 | S>F | No |
ClinGen TOPMed |
|
|
CA8588803 rs765796687 |
501 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA399673048 rs1290442380 |
504 | V>I | No |
ClinGen gnomAD |
|
|
CA8588804 rs776141526 |
505 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs763431743 CA399673056 |
505 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8588805 rs763431743 |
505 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399673057 rs763431743 |
505 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 506 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767751816 CA8588809 |
507 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs145831322 CA8588808 |
507 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145831322 CA8588807 |
507 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1420922726 CA399673068 |
508 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs372331738 CA290819119 |
508 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372331738 CA8588810 |
508 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399673071 rs1597760905 |
509 | V>I | No |
ClinGen Ensembl |
|
|
rs74586760 CA8588811 |
513 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8588815 rs527942295 |
516 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs527942295 CA8588813 |
516 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8588817 rs747658188 |
517 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8588818 rs773027462 |
519 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs746163891 CA8588819 |
520 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs770273376 CA8588820 |
522 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs889665334 CA290819189 |
523 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA399673158 rs889665334 |
523 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs768120712 CA399673178 |
526 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8588821 rs768120712 |
526 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA290819202 rs1007559890 |
527 | H>R | No |
ClinGen TOPMed |
|
|
rs764559984 CA8588823 |
528 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399673192 rs1597761070 |
528 | D>G | No |
ClinGen Ensembl |
|
|
rs1441602801 CA399673188 |
528 | D>H | No |
ClinGen gnomAD |
|
|
CA8588824 rs774442115 |
531 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761831894 CA8588825 COSM1679849 |
532 | R>C | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs767660129 CA8588826 |
532 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399673218 rs767660129 |
532 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756385044 CA8588828 |
533 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766156837 CA8588829 |
534 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA290819259 rs200217728 |
534 | A>V | No |
ClinGen 1000Genomes |
|
|
rs754919339 CA8588831 |
536 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1196530419 CA399673241 |
536 | S>A | No |
ClinGen TOPMed |
|
|
rs1196530419 CA399673240 |
536 | S>P | No |
ClinGen TOPMed |
|
|
rs369376117 CA290819292 |
540 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs369376117 CA290819275 |
540 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA399673272 rs1241179847 |
541 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 542 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1168943624 CA399673280 |
542 | V>L | No |
ClinGen gnomAD |
|
|
CA8588834 rs757983154 |
544 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA8588835 rs375833434 |
546 | L>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8588836 rs746659117 |
547 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs770751462 CA8588837 |
550 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8588838 rs147773660 |
550 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141180839 CA8588839 |
553 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8588840 rs769168134 |
554 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA399673358 rs1437755576 |
554 | W>L | No |
ClinGen gnomAD |
|
|
rs774726247 CA8588841 |
555 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1597761325 CA399673369 |
556 | N>T | No |
ClinGen Ensembl |
|
|
rs960236076 CA290819401 |
557 | L>V | No |
ClinGen TOPMed |
|
|
rs1212515387 CA399673383 |
558 | I>T | No |
ClinGen gnomAD |
|
|
rs1597761366 CA399673408 |
562 | G>R | No |
ClinGen Ensembl |
|
|
CA399673414 rs1241228093 |
563 | S>T | No |
ClinGen gnomAD |
|
|
rs1188985115 CA399673420 |
564 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 565 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8588844 rs773346413 |
565 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs147605440 CA8588846 |
566 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs3744241 CA8588845 VAR_051328 |
566 | E>K | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs753619133 CA8588847 |
567 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA399673452 rs1472426223 |
569 | Y>H | No |
ClinGen TOPMed |
|
|
rs1175742781 CA399673460 |
570 | Q>E | No |
ClinGen gnomAD |
|
|
rs1233426866 CA399673522 |
578 | T>A | No |
ClinGen TOPMed |
|
|
rs759277627 CA8588848 |
578 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs766700541 CA8588849 |
584 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399673573 rs1204717759 |
585 | N>K | No |
ClinGen TOPMed |
|
|
CA399673576 rs1326274225 |
586 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8588850 rs752585544 |
587 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8588851 rs375753180 |
589 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8588852 rs369271006 |
589 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs113828381 CA290819488 |
592 | S>G | No |
ClinGen Ensembl |
|
|
CA8588853 rs751166538 |
597 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA399673660 rs1331136863 |
599 | V>I | No |
ClinGen gnomAD |
|
|
CA399673676 rs1283456748 |
601 | L>Q | No |
ClinGen gnomAD |
|
|
rs780741452 CA8588855 |
601 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA399673679 rs1177799441 |
602 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1597761597 CA399673683 |
603 | V>M | No |
ClinGen Ensembl |
|
|
CA8588856 rs749602274 |
604 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8588857 rs768916891 |
604 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248696783 CA399673695 |
605 | Q>* | No |
ClinGen gnomAD |
|
|
rs1405168306 CA399673700 |
605 | Q>H | No |
ClinGen TOPMed |
|
|
CA399673724 rs1427372248 |
609 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA399673725 rs1427372248 |
609 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA399673750 rs1179194696 |
612 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8588860 rs758033721 |
613 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399673757 rs1430491505 |
613 | F>L | No |
ClinGen gnomAD |
|
|
rs1159705828 CA399673759 |
614 | F>R | No |
ClinGen gnomAD |
No associated diseases with Q96C34
1 regional properties for Q96C34
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RUN domain | 421 - 602 | IPR004012 |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
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. |
2 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. |
| 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. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAVEAAAEP | VTVVAAVGPK | AKDEEEEEEE | PLPPCEAVRW | APVGAVAEAR | PGATAFLEEA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TAEEPGAAPG | SPPDSPGRTL | RRLRAERRRL | DSALLALSSH | FAQVQFRLRQ | VVRGAPAEQQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RLLRELEDFA | FRGCPHVLGY | EGPGDPASDE | GDGLPGDRPW | LRGEDQSEQE | KQERLETQRE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KQKELILQLK | TQLDDLETFA | YQEGSYDSLP | QSVVLERQRV | IIDELIKKLD | MNLNEDISSL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| STEELRQRVD | AAVAQIVNPA | RVKEQLVEQL | KTQIRDLEMF | INFIQDEVGS | PLQTGGGHCE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CKAGGKTGNG | CSRTGSSRTP | PGNSKTKAED | VKKVRETGLH | LMRRALAVLQ | IFAVSQFGCA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TGQIPPTLWQ | RVQADRDYSP | LLKRLEVSVD | RVKQLALRQQ | PHDHVITSAN | LQDLSLGGKD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ELTMAVRKEL | TVAVRDLLAH | GLYASSPGMS | LVMAPIACLL | PAFSSAPEAM | HPWELFVKYY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| HAKNGRAYVE | SPARKLSQSF | ALPVTGGTVV | TPKQSLLTAI | HMVLTEHDPF | KRSADSELKA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LVCMALNEQR | LVSWVNLICK | SGSLIEPHYQ | PWSYMAHTGF | ESALNLLSRL | SSLKFSLPVD |
| 610 | |||||
| LAVRQLKNIK | DAF |