Q8IWW6
PR
Gene name |
ARHGAP12 |
Protein name |
Rho GTPase-activating protein 12 |
Names |
Rho-type GTPase-activating protein 12 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:94134 |
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 Q8IWW6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8IWW6-F1 | Predicted | AlphaFoldDB |
635 variants for Q8IWW6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA376501203 rs1285170952 |
3 | M>V | No |
ClinGen gnomAD |
|
|
CA5462701 rs191213349 |
4 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376501194 rs1216690896 |
4 | A>T | No |
ClinGen gnomAD |
|
|
rs1332485053 CA376501189 |
5 | D>H | No |
ClinGen TOPMed |
|
|
rs774542674 CA5462700 |
5 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs61748334 CA5462699 |
6 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769835452 CA5462696 |
12 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA376501126 rs1414306482 |
14 | Q>R | No |
ClinGen gnomAD |
|
|
rs747880032 CA5462695 |
15 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179290734 CA376501108 |
17 | I>V | No |
ClinGen gnomAD |
|
|
rs781087575 CA5462694 |
19 | V>G | No |
ClinGen ExAC |
|
|
CA376501084 rs1289508909 |
20 | E>V | No |
ClinGen TOPMed |
|
|
CA376501039 rs1423458476 |
26 | E>K | No |
ClinGen gnomAD |
|
|
rs1186602381 CA376501028 |
27 | A>V | No |
ClinGen gnomAD |
|
|
CA376501007 rs1564428168 |
30 | R>I | No |
ClinGen Ensembl |
|
|
CA376500998 rs1235408190 |
31 | K>N | No |
ClinGen gnomAD |
|
|
CA205773491 rs1045599915 |
31 | K>R | No |
ClinGen TOPMed |
|
|
CA376500989 rs374457563 CA5462693 |
33 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376500978 rs1269525720 |
35 | K>Q | No |
ClinGen TOPMed |
|
|
CA205773484 rs917436262 |
36 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 36 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779494677 CA5462691 |
39 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1014059470 CA205773481 |
39 | R>K | No |
ClinGen TOPMed |
|
|
CA376500939 rs1406684993 |
40 | Y>* | No |
ClinGen Ensembl |
|
|
rs896585442 CA205773479 |
40 | Y>H | No |
ClinGen TOPMed |
|
|
rs757921458 CA5462690 |
41 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5462689 rs547475536 |
43 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376500918 rs1215262991 |
44 | K>E | No |
ClinGen gnomAD |
|
|
CA5462687 rs756703362 |
46 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs752982043 CA5462686 |
47 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs956142453 CA205773470 |
48 | D>G | No |
ClinGen Ensembl |
|
|
rs1339115498 CA376500862 |
51 | W>* | No |
ClinGen gnomAD |
|
|
CA5462683 rs774726531 |
52 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376500848 rs1458826675 |
53 | V>A | No |
ClinGen TOPMed |
|
|
rs766500384 CA5462682 |
53 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1171677886 CA376500846 |
54 | K>Q | No |
ClinGen gnomAD |
|
|
CA5462681 rs763119830 |
56 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs773479942 CA5462680 |
60 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs137936070 CA5462679 |
61 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376500773 rs1457115525 |
64 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs746608972 CA5462675 |
65 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1377094098 CA376500764 |
66 | A>T | No |
ClinGen TOPMed |
|
|
rs779689683 CA5462674 |
66 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs745369386 CA5462672 |
67 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs978740720 CA205773457 |
67 | Q>R | No |
ClinGen Ensembl |
|
|
rs1360439689 CA376500753 |
68 | Y>N | No |
ClinGen gnomAD |
|
|
rs1448754188 CA376500745 |
69 | V>M | No |
ClinGen TOPMed |
|
|
CA376500735 rs1312580891 |
70 | K>R | No |
ClinGen TOPMed |
|
|
CA5462670 rs756549770 |
73 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5462671 rs756549770 |
73 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5462668 rs200030472 |
74 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200030472 CA376500713 |
74 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150296370 COSM1162908 CA5462666 |
74 | R>H | kidney pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs150296370 CA5462667 |
74 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA205773451 rs200030472 |
74 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376500701 rs1258955245 |
76 | A>S | No |
ClinGen TOPMed |
|
|
CA205773444 rs964644282 |
77 | L>I | No |
ClinGen gnomAD |
|
|
CA376500697 rs964644282 |
77 | L>V | No |
ClinGen gnomAD |
|
|
CA5462665 rs766694722 |
78 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367703589 CA205773442 |
79 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA376500678 rs140240841 |
80 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5462664 rs140240841 |
80 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376500673 rs1369757172 |
81 | V>L | No |
ClinGen TOPMed |
|
|
rs957099904 CA205773437 |
85 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1466842773 CA376500637 |
86 | G>A | No |
ClinGen TOPMed |
|
|
rs1032673452 CA205773435 |
87 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs761603265 CA5462661 |
88 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs373809099 CA5462660 |
89 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5462659 rs768271267 |
89 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs775326319 CA5462657 |
92 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA205773432 rs375329084 |
92 | T>P | No |
ClinGen Ensembl |
|
|
rs771692078 CA5462656 |
93 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA376500581 rs1316768339 |
95 | M>I | No |
ClinGen gnomAD |
|
|
rs745562678 CA5462655 |
95 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs527285847 CA205773426 |
97 | S>R | No |
ClinGen Ensembl |
|
|
CA5462654 rs778248302 |
100 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1396593284 CA376500545 |
101 | Q>E | No |
ClinGen TOPMed |
|
|
CA376500542 rs1366119159 |
101 | Q>R | No |
ClinGen gnomAD |
|
|
rs1324548763 CA376500537 |
102 | R>G | No |
ClinGen TOPMed |
|
|
rs148210152 CA5462653 |
104 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1296032954 CA376500500 |
107 | V>A | No |
ClinGen gnomAD |
|
|
CA376500501 rs1296032954 |
107 | V>E | No |
ClinGen gnomAD |
|
|
rs781720447 CA5462651 |
107 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1345353171 CA376500494 |
108 | N>S | No |
ClinGen gnomAD |
|
|
CA376500482 rs1320339443 |
110 | L>M | No |
ClinGen TOPMed |
|
|
rs1424406025 CA376500445 |
115 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5462648 rs780601971 |
117 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750678343 CA5462646 |
119 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA376500411 rs1485673938 |
120 | S>W | No |
ClinGen gnomAD |
|
|
rs761960205 CA5462644 |
121 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5462643 rs376585372 |
124 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5462642 rs764083821 |
126 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5462641 rs775234209 |
127 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA5462640 rs775234209 |
127 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA5462639 rs61758696 |
129 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5462638 rs373415164 |
130 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs542690709 CA5462637 |
130 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5462636 rs185976135 |
132 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs553867626 CA5462635 |
133 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5462634 rs117113257 |
133 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 134 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA205773387 rs1038341191 |
137 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5462633 rs769250973 |
138 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA376500304 rs1470909149 |
138 | P>S | No |
ClinGen gnomAD |
|
|
CA5462632 rs570562374 |
139 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 140 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376500277 rs1298929050 |
142 | Q>E | No |
ClinGen TOPMed |
|
|
CA205773381 rs942664290 |
143 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780514425 CA5462631 |
144 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5462630 rs370874078 |
145 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 146 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1482518289 CA376500250 |
146 | V>G | No |
ClinGen gnomAD |
|
|
rs1262894024 CA376500236 |
148 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA376500222 rs1259305939 |
150 | L>R | No |
ClinGen TOPMed |
|
|
CA376500205 rs1256667916 |
153 | T>N | No |
ClinGen gnomAD |
|
|
CA5462627 rs757482609 |
155 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5462626 rs753936004 |
155 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA376500178 rs1381846316 |
157 | G>E | No |
ClinGen gnomAD |
|
|
rs760565918 CA5462624 |
157 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA205773368 rs978856722 |
160 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs913388274 CA205773365 |
161 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs752655817 CA5462623 |
162 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759369043 CA5462621 |
163 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA5462620 rs774071214 |
164 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs762549542 CA5462618 |
165 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs925654712 CA205773353 |
169 | S>A | No |
ClinGen TOPMed |
|
|
rs267602472 CA205773351 |
169 | S>F | No |
ClinGen Ensembl |
|
|
rs769448925 CA5462616 |
170 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs747458042 CA5462615 |
171 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1195703426 CA376500059 COSM185584 |
175 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM917747 rs755977039 CA5462613 |
175 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs755977039 CA376500057 |
175 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752608561 CA5462610 |
176 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779197549 CA5462611 |
176 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA376500048 rs1315266547 |
177 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 178 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1474317558 CA376500036 |
179 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1564427262 CA376500023 |
180 | F>L | No |
ClinGen Ensembl |
|
|
CA5462608 rs377649001 |
181 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5462609 rs749504506 |
181 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5462605 rs201347789 |
182 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5462606 rs201347789 |
182 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5462604 rs754920279 |
183 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376500005 rs1299971033 |
184 | E>A | No |
ClinGen gnomAD |
|
|
rs1164424504 CA376499995 |
185 | F>L | No |
ClinGen gnomAD |
|
|
COSM1187922 rs751337232 CA5462603 |
185 | F>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA205773332 rs866743889 |
187 | D>H | No |
ClinGen TOPMed |
|
|
CA376499983 rs1446866989 |
187 | D>V | No |
ClinGen gnomAD |
|
|
rs200020407 CA5462602 |
188 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762613817 CA5462601 |
190 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs147715013 CA5462600 |
192 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs950489655 CA205773324 |
193 | F>L | No |
ClinGen Ensembl |
|
|
CA376499935 rs1490030187 |
194 | S>F | No |
ClinGen gnomAD |
|
|
CA376499934 rs1186576167 |
195 | Q>K | No |
ClinGen gnomAD |
|
|
rs950617347 CA205773320 |
195 | Q>R | No |
ClinGen TOPMed |
|
|
rs145689717 CA5462599 |
197 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 198 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146720470 CA5462597 |
199 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772614625 CA5462596 |
200 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs529730061 CA5462594 |
202 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5462593 rs529730061 |
202 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1296680402 CA376499879 |
203 | G>A | No |
ClinGen TOPMed |
|
|
CA376499869 rs1403231092 |
204 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA376499865 rs1365006625 |
205 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA376499864 rs1365006625 |
205 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5462592 rs749469657 |
206 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1592369503 CA376499836 |
209 | I>M | No |
ClinGen Ensembl |
|
|
rs369214484 CA5462590 |
210 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs748203346 CA5462589 |
211 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs781289725 CA5462588 |
214 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5462586 rs751470628 |
216 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA5462583 rs750313462 |
224 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA5462582 rs375156262 |
225 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA376499723 rs1352542507 |
226 | Q>* | No |
ClinGen gnomAD |
|
|
rs761610009 CA376499721 |
226 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs761610009 CA5462581 |
226 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs766546011 CA5462580 |
227 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760040890 CA5462578 |
228 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA205761371 rs1031795970 |
229 | A>G | No |
ClinGen TOPMed |
|
|
CA376499247 rs1170253297 |
229 | A>P | No |
ClinGen TOPMed |
|
|
CA205761367 rs775447427 |
230 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5462559 rs767044031 |
230 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA376499230 rs1452322028 |
232 | P>R | No |
ClinGen gnomAD |
|
|
CA5462557 rs752320397 |
232 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs904384567 CA205761363 |
234 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5462556 rs558646264 |
234 | N>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs759149647 CA376499205 |
236 | G>A | No |
ClinGen gnomAD |
|
|
rs759149647 CA205761359 |
236 | G>E | No |
ClinGen gnomAD |
|
|
rs1592303580 CA376499203 |
237 | R>G | No |
ClinGen Ensembl |
|
|
CA205761353 rs942457070 |
239 | D>E | No |
ClinGen Ensembl |
|
|
rs1054203820 CA205761355 |
239 | D>H | No |
ClinGen TOPMed |
|
|
rs895452236 CA205761351 |
240 | S>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 240 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230814833 CA376499155 |
244 | A>G | No |
ClinGen TOPMed |
|
|
rs1461565197 CA376499153 |
245 | N>D | No |
ClinGen gnomAD |
|
|
CA376499145 rs1592303483 |
246 | L>F | No |
ClinGen Ensembl |
|
|
rs776720348 CA376499133 |
247 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 248 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5462550 rs768987896 |
248 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1485384500 CA376499108 |
250 | K>R | No |
ClinGen TOPMed |
|
|
CA376499086 rs1272391647 |
251 | I>M | No |
ClinGen gnomAD |
|
|
CA205761347 rs1051204874 |
253 | Q>K | No |
ClinGen Ensembl |
|
|
rs1215166940 CA376499026 |
256 | L>F | No |
ClinGen gnomAD |
|
|
rs918997433 CA205761343 |
257 | P>R | No |
ClinGen TOPMed |
|
|
rs780233101 COSM366023 CA5462548 |
257 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs146083108 CA205761340 |
258 | P>A | No |
ClinGen ESP |
|
|
rs1288668409 CA376498996 |
258 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5462545 rs778801545 |
260 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5462544 rs529260907 |
263 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392939692 CA376498899 |
265 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 266 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376498871 rs1564396112 |
266 | Q>L | No |
ClinGen Ensembl |
|
|
CA376498851 rs1413385667 |
267 | I>S | No |
ClinGen TOPMed |
|
|
rs1411118820 CA376498825 |
269 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
CA205761334 rs918240270 |
269 | G>E | No |
ClinGen TOPMed |
|
|
rs1411118820 CA376498828 |
269 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 272 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755837147 CA5462541 |
273 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA376498733 rs1445061586 |
274 | H>R | No |
ClinGen gnomAD |
|
|
rs751052415 CA205761329 |
276 | D>N | No |
ClinGen Ensembl |
|
|
rs1037326820 CA205761327 |
279 | G>E | No |
ClinGen Ensembl |
|
|
CA205761323 rs941576253 |
280 | R>C | No |
ClinGen Ensembl |
|
|
rs762881670 CA5462539 |
280 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5462538 rs763401348 |
281 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs990960017 CA205761319 |
282 | Y>C | No |
ClinGen Ensembl |
|
|
rs1205337927 CA376498666 |
284 | Y>C | No |
ClinGen gnomAD |
|
|
CA376498654 rs1484062086 |
285 | N>K | No |
ClinGen gnomAD |
|
|
rs941515043 CA205761316 |
288 | T>A | No |
ClinGen TOPMed |
|
|
rs139938049 CA205761314 |
289 | Q>R | No |
ClinGen ESP |
|
|
rs1360686442 CA376498621 |
290 | E>D | No |
ClinGen gnomAD |
|
|
rs1315290929 CA376498613 |
292 | T>P | No |
ClinGen gnomAD |
|
|
rs1280602941 CA376498585 |
295 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1280602941 CA376498586 |
295 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1219858449 CA376498588 |
295 | P>S | No |
ClinGen TOPMed |
|
|
rs1215612202 CA376498580 |
296 | P>R | No |
ClinGen TOPMed |
|
|
CA5462534 rs777110210 |
297 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA376498572 rs1192204207 |
297 | R>H | No |
ClinGen TOPMed |
|
|
CA205761306 rs755461594 |
299 | T>A | No |
ClinGen gnomAD |
|
|
CA376498533 rs761001484 |
300 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5462532 rs761001484 |
300 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768741261 CA5462533 |
300 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438779151 CA376498498 |
302 | A>E | No |
ClinGen gnomAD |
|
|
CA5462531 rs775396873 |
305 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1158329745 CA376498448 COSM917745 |
305 | S>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA376498433 rs1418238439 |
306 | K>R | No |
ClinGen gnomAD |
|
|
CA376498402 rs1436984158 |
308 | D>G | No |
ClinGen TOPMed |
|
|
CA5462528 rs774436251 |
312 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1330337516 CA376498327 |
313 | G>E | No |
ClinGen TOPMed |
|
|
CA205761297 rs113025800 |
314 | D>H | No |
ClinGen gnomAD |
|
|
CA376498320 rs113025800 |
314 | D>Y | No |
ClinGen gnomAD |
|
|
rs771060243 CA5462527 |
315 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749278200 CA5462505 |
320 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749278200 CA5462506 |
320 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA205759552 rs529535467 |
320 | S>P | No |
ClinGen Ensembl |
|
|
rs1322068837 CA376497645 |
323 | N>S | No |
ClinGen gnomAD |
|
|
CA5462502 rs573298311 |
324 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780814291 CA5462501 |
325 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA376497633 rs1223645464 |
325 | Y>H | No |
ClinGen gnomAD |
|
|
rs754680932 CA5462500 |
326 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs771510210 CA5462499 |
329 | Y>* | No |
ClinGen ExAC |
|
|
CA376497588 rs779582568 |
331 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5462497 rs779582568 |
331 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376497575 rs1322300495 |
333 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1322300495 CA376497574 |
333 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1439129316 CA376497563 |
335 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA376497542 rs1470367143 |
337 | G>V | No |
ClinGen gnomAD |
|
|
rs1379441169 CA376497533 |
339 | P>S | No |
ClinGen gnomAD |
|
|
CA376497527 rs1168676902 |
340 | P>S | No |
ClinGen gnomAD |
|
|
CA205759539 rs983775608 |
342 | G>V | No |
ClinGen Ensembl |
|
|
CA376497503 rs1428158597 |
343 | W>C | No |
ClinGen gnomAD |
|
|
rs764308219 CA5462494 |
346 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA376497472 rs1164315982 |
348 | D>N | No |
ClinGen TOPMed |
|
|
rs144804912 CA5462492 |
350 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759888384 CA5462490 |
350 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs759888384 CA5462491 |
350 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA5462489 rs774530324 |
352 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 352 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766586219 CA5462488 |
353 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA376497416 rs1307749281 |
353 | T>I | No |
ClinGen gnomAD |
|
|
CA376497405 rs1299298549 |
354 | L>F | No |
ClinGen gnomAD |
|
|
CA5462487 rs200780714 |
355 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA205759528 rs970905584 |
355 | Y>H | No |
ClinGen Ensembl |
|
|
CA5462486 rs375273368 |
356 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376497383 rs375273368 |
356 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1410854514 CA376497366 |
357 | S>I | No |
ClinGen TOPMed |
|
|
rs1288547080 CA376497361 COSM427495 |
358 | D>N | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA376497350 rs1337386030 |
358 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 362 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376497300 rs1397704531 |
362 | E>K | No |
ClinGen gnomAD |
|
|
CA376497282 rs1394180427 |
363 | K>* | No |
ClinGen gnomAD |
|
|
rs1296530538 CA376497279 |
363 | K>T | No |
ClinGen gnomAD |
|
|
CA5462463 rs763082725 |
364 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1235307550 CA376497108 |
366 | K>R | No |
ClinGen TOPMed |
|
|
rs1292005048 CA376497090 |
367 | H>R | No |
ClinGen gnomAD |
|
|
rs1490086574 CA376497096 |
367 | H>Y | No |
ClinGen gnomAD |
|
|
rs1564390238 CA376497070 |
369 | D>N | No |
ClinGen Ensembl |
|
|
rs1211464477 CA376497043 |
370 | D>V | No |
ClinGen gnomAD |
|
|
rs761562589 CA205759144 |
371 | Q>K | No |
ClinGen Ensembl |
|
|
rs1348233840 CA376497016 |
372 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1239657668 CA376496986 |
374 | Q>R | No |
ClinGen gnomAD |
|
|
CA5462461 rs753394776 |
376 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324430051 CA376496878 |
381 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs760263342 CA5462458 |
383 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760263342 CA5462457 |
383 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407480747 CA376496850 |
383 | R>W | No |
ClinGen gnomAD |
|
|
rs771692834 CA5462455 |
387 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592289529 CA376496761 |
389 | P>R | No |
ClinGen Ensembl |
|
|
CA5462453 rs767800748 |
390 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1188997934 CA376495998 |
391 | Y>C | No |
ClinGen gnomAD |
|
|
rs1372102111 CA376496001 |
391 | Y>H | No |
ClinGen gnomAD |
|
|
CA5462434 rs775326302 |
392 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5462433 rs767178832 |
392 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs759154300 CA5462432 |
393 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376495973 rs773859173 |
395 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5462431 rs773859173 |
395 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755068901 CA5462430 |
396 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5462429 rs748594767 |
398 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 400 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1194581496 CA376495923 |
402 | I>M | No |
ClinGen TOPMed |
|
|
CA5462428 rs374238403 |
402 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1244180257 COSM185571 CA376495896 |
406 | S>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA5462425 rs780320794 |
410 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371320779 CA5462426 |
410 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758604696 CA5462424 |
411 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs746102504 CA5462423 |
412 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376495847 rs1592279405 |
414 | P>S | No |
ClinGen Ensembl |
|
|
CA376495840 rs1168807902 |
415 | I>K | No |
ClinGen gnomAD |
|
|
rs1400015373 CA376495832 |
416 | V>A | No |
ClinGen TOPMed |
|
|
CA376495836 rs1382186673 |
416 | V>I | No |
ClinGen TOPMed |
|
|
CA5462422 rs200967453 |
418 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1182689916 CA376495808 |
420 | W>* | No |
ClinGen gnomAD |
|
|
rs201902133 CA5462420 |
420 | W>R | No |
ClinGen 1000Genomes ExAC |
|
|
CA376495802 rs1473089838 |
421 | R>G | No |
ClinGen gnomAD |
|
|
CA376495782 rs1282426221 |
423 | S>N | No |
ClinGen TOPMed |
|
|
rs756096661 CA5462418 |
424 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5462417 rs752508527 |
425 | I>V | No |
ClinGen ExAC |
|
|
CA5462415 rs759168129 |
429 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs373837366 CA5462414 |
431 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376495702 rs1281262043 |
433 | E>G | No |
ClinGen TOPMed |
|
|
CA376495694 rs1343284525 |
434 | S>C | No |
ClinGen gnomAD |
|
|
CA5462398 rs767272767 |
436 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs866789948 CA205756351 |
437 | A>S | No |
ClinGen Ensembl |
|
|
CA5462397 rs373962077 |
440 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376495653 rs1351389108 |
441 | C>S | No |
ClinGen gnomAD |
|
|
CA5462396 rs751424890 |
442 | F>L | No |
ClinGen ExAC gnomAD |
|
|
VAR_024454 CA5462395 rs2808096 |
442 | F>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA376495646 rs2808096 |
442 | F>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs866562410 CA205756348 |
443 | P>S | No |
ClinGen Ensembl |
|
|
rs1157991710 CA376495633 |
444 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA376495634 rs1157991710 |
444 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA205756347 rs200031299 |
447 | S>P | No |
ClinGen 1000Genomes |
|
|
CA5462394 rs762733563 |
448 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1473600882 CA376495604 |
449 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs201029525 CA205756339 |
449 | P>L | No |
ClinGen 1000Genomes |
|
|
rs368874725 CA376495598 |
450 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA205756336 rs961127730 |
450 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA376495596 rs961127730 |
450 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs368874725 CA5462393 |
450 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764859481 CA5462392 |
451 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs144032792 CA5462391 |
453 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs999996383 CA205756332 |
455 | Q>E | No |
ClinGen Ensembl |
|
|
CA376495567 rs1483239953 |
455 | Q>R | No |
ClinGen gnomAD |
|
|
rs1214009297 CA376495556 |
456 | D>E | No |
ClinGen gnomAD |
|
|
CA376495557 rs1375654045 |
456 | D>V | No |
ClinGen TOPMed |
|
|
CA5462390 rs775867298 |
457 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs775867298 CA376495550 |
457 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA5462369 rs532391803 |
458 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142038327 CA5462368 |
458 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs563582369 CA5462366 |
460 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1361172411 CA376495516 |
461 | P>A | No |
ClinGen gnomAD |
|
|
CA5462365 rs773416060 |
462 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1163175847 CA376495489 |
463 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA376495444 rs1266034248 |
469 | L>* | No |
ClinGen gnomAD |
|
|
CA5462344 rs776524316 |
469 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376495427 rs768793761 |
472 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5462343 rs768793761 |
472 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 474 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 475 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5462341 rs775565385 |
482 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376495356 rs775565385 |
482 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM227809 CA5462340 rs369851721 |
483 | R>* | Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5462339 rs745636150 |
483 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1362939012 CA376499684 |
485 | N>D | No |
ClinGen gnomAD |
|
|
CA376499635 rs1198762712 |
491 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA376499626 rs1195903798 |
493 | L>S | No |
ClinGen TOPMed |
|
|
CA205749037 rs1000430397 |
494 | Q>* | No |
ClinGen TOPMed |
|
|
CA376499620 rs1000430397 |
494 | Q>E | No |
ClinGen TOPMed |
|
|
CA205749036 rs904520149 |
495 | G>D | No |
ClinGen TOPMed |
|
|
CA376499613 rs1275640566 |
495 | G>S | No |
ClinGen gnomAD |
|
|
CA376499592 rs1363464807 |
498 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5462310 rs779078374 |
503 | T>N | No |
ClinGen ExAC TOPMed |
|
|
rs1436488170 CA376499560 |
503 | T>S | No |
ClinGen gnomAD |
|
|
CA376499559 rs779078374 |
503 | T>S | No |
ClinGen ExAC TOPMed |
|
|
rs1156502856 CA376499539 |
506 | S>N | No |
ClinGen TOPMed |
|
|
CA376499532 rs1391388188 |
507 | S>N | No |
ClinGen gnomAD |
|
|
rs757638615 CA5462309 |
509 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA376499509 rs1413382744 |
510 | W>L | No |
ClinGen gnomAD |
|
|
CA5462283 rs756358745 |
511 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs752983644 CA5462282 |
513 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA376499476 rs1238140389 |
513 | S>N | No |
ClinGen gnomAD |
|
|
CA5462281 rs374993453 |
514 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA205748402 rs374993453 |
514 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5462280 rs759687541 COSM1183362 |
516 | S>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1383850259 CA376499451 |
517 | K>T | No |
ClinGen TOPMed |
|
|
CA376499414 rs1206361216 |
522 | V>A | No |
ClinGen gnomAD |
|
|
CA376499398 rs1455665069 |
525 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1007153259 CA205748399 |
525 | K>N | No |
ClinGen TOPMed |
|
|
CA376499394 rs1288417117 |
525 | K>R | No |
ClinGen gnomAD |
|
|
CA376499390 rs766305615 |
526 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5462278 rs766305615 |
526 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs762827411 CA5462277 |
528 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1285479931 CA376499376 |
528 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs185255532 CA5462276 |
529 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769589351 CA5462275 |
530 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5462274 rs761385680 |
531 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1411504607 CA376499352 |
532 | A>S | No |
ClinGen gnomAD |
|
|
CA376499328 rs1322583962 |
535 | D>E | No |
ClinGen gnomAD |
|
|
CA5462273 rs372003953 |
535 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5462272 rs768353674 |
537 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA5462271 rs746506245 |
538 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA376499303 rs1487159299 |
539 | K>R | No |
ClinGen TOPMed |
|
|
rs1167224120 CA376499285 |
541 | N>K | No |
ClinGen gnomAD |
|
|
rs1183359195 CA376499109 |
545 | L>M | No |
ClinGen TOPMed |
|
|
rs780112808 CA5462239 |
547 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs758401380 CA5462238 |
547 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs750559808 CA5462237 |
548 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5462236 rs369473115 |
548 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs757226535 CA5462235 |
549 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 550 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376499043 rs1415462173 |
551 | T>A | No |
ClinGen gnomAD |
|
|
rs371517060 CA5462234 |
555 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA205748152 rs529864148 |
556 | Q>R | No |
ClinGen Ensembl |
|
|
rs760320826 CA5462232 |
557 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA5462233 rs763819297 |
557 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA5462231 rs200249037 |
559 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1360133371 CA376498955 |
559 | N>K | No |
ClinGen TOPMed |
|
|
CA5462230 rs147085066 |
559 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376498944 rs1255107283 |
560 | D>G | No |
ClinGen gnomAD |
|
|
rs1373594684 CA376498952 |
560 | D>N | No |
ClinGen gnomAD |
|
|
CA376498937 rs1210400059 |
561 | T>A | No |
ClinGen gnomAD |
|
|
rs774041275 CA5462228 |
563 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA592740063 rs1297595829 |
567 | F>* | No |
ClinGen gnomAD |
|
|
rs770379801 CA5462227 |
568 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA205748151 rs1048338404 |
569 | V>F | No |
ClinGen Ensembl |
|
|
CA5462226 rs762429547 |
570 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592248204 CA376498820 |
571 | S>I | No |
ClinGen Ensembl |
|
|
CA5462225 rs777075091 |
573 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs151313830 CA5462224 |
574 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1217431835 CA376498763 |
576 | N>D | No |
ClinGen TOPMed |
|
|
rs1012157424 CA205748149 |
577 | Q>E | No |
ClinGen TOPMed |
|
|
rs747471058 CA5462223 |
577 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA376498556 rs1368361425 |
579 | V>I | No |
ClinGen gnomAD |
|
|
CA205747777 rs942633409 |
580 | E>K | No |
ClinGen TOPMed |
|
|
rs906925209 CA205747776 |
582 | D>V | No |
ClinGen TOPMed |
|
|
rs769262066 CA5462205 |
583 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 583 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs560458886 CA5462204 |
585 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5462203 rs202148847 |
586 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771230529 CA205747775 |
588 | E>V | No |
ClinGen TOPMed |
|
|
CA5462202 rs772146467 |
589 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA205747774 rs577697165 |
589 | I>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs142283537 CA5462201 |
590 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376498427 rs142283537 |
590 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376498416 rs1481966281 |
591 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5462199 rs771005631 |
593 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777562626 CA5462197 |
594 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs146542925 CA5462196 |
594 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781058942 CA5462194 |
595 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5462195 rs752391248 |
595 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5462193 rs754616895 |
598 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA205747773 rs955104961 |
599 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA205747772 rs912962916 |
602 | K>R | No |
ClinGen TOPMed |
|
|
CA5462192 rs751258452 |
604 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751258452 CA376498257 |
604 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs990362030 CA205747771 |
606 | D>N | No |
ClinGen Ensembl |
|
|
CA5462190 rs762537578 |
607 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs749999114 CA5462189 |
608 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1462623769 CA376498221 |
609 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 609 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs555184668 CA5462187 |
611 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA5462186 rs368922416 |
611 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1286692379 CA376498175 |
614 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746857010 CA5462171 |
614 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs779829017 CA5462170 |
615 | V>I | No |
ClinGen ExAC |
|
|
rs1198951995 CA376498169 |
616 | S>P | No |
ClinGen gnomAD |
|
|
rs1344510846 CA376498162 |
617 | S>R | No |
ClinGen gnomAD |
|
|
rs1366937925 CA376498159 |
617 | S>T | No |
ClinGen TOPMed |
|
|
CA376498151 rs1281519275 |
618 | I>T | No |
ClinGen gnomAD |
|
|
rs758163235 CA5462169 |
619 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA5462168 rs757924693 |
620 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5462166 rs756521269 |
623 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 624 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5462165 rs753254232 |
625 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 626 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5462164 rs199946742 |
626 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs143153220 | 626 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5462163 rs759884929 |
627 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA376498074 rs1175328979 |
629 | N>K | No |
ClinGen gnomAD |
|
|
rs866114568 CA205747636 |
633 | F>L | No |
ClinGen Ensembl |
|
|
rs774749812 CA5462162 |
636 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs146011999 CA205747635 |
636 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs766560539 CA5462161 |
637 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA376498008 rs1400672459 |
640 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs375721646 CA205747634 |
640 | L>V | No |
ClinGen ESP TOPMed |
|
|
rs773103901 CA376497984 |
644 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769919042 CA5462158 |
644 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA5462159 rs773103901 |
644 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748240527 CA5462157 |
646 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA376497944 rs1564364950 |
650 | K>Q | No |
ClinGen Ensembl |
|
|
CA376497936 rs1482269032 |
651 | D>N | No |
ClinGen gnomAD |
|
|
rs1026880664 CA205747401 |
653 | V>E | No |
ClinGen Ensembl |
|
|
CA5462135 rs776889315 |
657 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs768674253 CA205747400 |
657 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768674253 CA5462134 |
657 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376497878 rs1564363505 |
658 | L>I | No |
ClinGen Ensembl |
|
| TCGA novel | 658 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5462131 rs771905977 |
659 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5462132 rs771905977 |
659 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5462129 rs150791219 |
660 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5462130 rs146802703 |
660 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1478225080 CA376497855 |
662 | C>G | No |
ClinGen TOPMed |
|
|
rs201809535 CA5462126 |
662 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1564363432 CA376497850 |
663 | Q>* | No |
ClinGen Ensembl |
|
|
rs1407498794 CA376497844 |
663 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1027430729 CA205747398 |
669 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 671 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376497790 rs1159273812 |
671 | K>N | No |
ClinGen TOPMed |
|
|
CA5462123 rs780601661 |
673 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1362510060 CA376497774 |
674 | K>Q | No |
ClinGen TOPMed |
|
|
rs1323464182 CA376497751 |
677 | I>L | No |
ClinGen TOPMed |
|
|
CA376497733 rs1269417962 |
679 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1294939330 CA376497723 |
681 | E>K | No |
ClinGen TOPMed |
|
|
CA376497703 rs1374138445 |
683 | H>R | No |
ClinGen TOPMed |
|
|
rs780320103 CA205747271 |
684 | G>D | No |
ClinGen Ensembl |
|
|
rs141159821 CA205747269 |
686 | D>A | No |
ClinGen ESP |
|
|
rs770581460 CA5462101 |
687 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1186176784 CA376497398 |
688 | D>G | No |
ClinGen gnomAD |
|
|
CA376497402 rs1255408837 |
688 | D>N | No |
ClinGen gnomAD |
|
|
rs1485250867 CA376497365 |
690 | I>M | No |
ClinGen gnomAD |
|
|
rs377180449 CA5462100 |
691 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 693 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376497265 rs1181779827 |
698 | A>T | No |
ClinGen TOPMed |
|
|
CA376497204 rs1350029288 |
706 | A>V | No |
ClinGen gnomAD |
|
|
CA376497201 rs1295299736 |
707 | V>I | No |
ClinGen gnomAD |
|
|
rs140324216 CA376497191 |
708 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140324216 CA5462095 |
708 | N>S | Variant assessed as Somatic; 9.239e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM538508 CA205747267 rs573378187 |
709 | H>Y | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1312482278 CA376497164 |
710 | D>E | No |
ClinGen gnomAD |
|
|
CA5462094 rs750758339 |
710 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1415852690 CA376497154 |
712 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 713 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376497100 rs1377653587 COSM3358738 |
715 | L>W | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs776028714 CA5462076 |
717 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1461937313 CA376497063 |
718 | S>G | No |
ClinGen gnomAD |
|
|
rs772592251 CA5462075 |
719 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA376497013 rs1171969336 |
721 | E>G | No |
ClinGen gnomAD |
|
|
rs1421534056 CA376496998 |
722 | D>G | No |
ClinGen gnomAD |
|
|
rs1317565054 CA376496982 |
723 | I>T | No |
ClinGen TOPMed |
|
|
CA205747264 rs766717106 |
728 | G>* | No |
ClinGen Ensembl |
|
| TCGA novel | 732 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749735354 CA5462071 |
735 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs758640731 CA205747263 |
739 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs752770092 CA5462068 |
739 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758640731 CA5462067 |
739 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1234141072 CA376496692 |
748 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5462066 rs754873004 |
750 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA205747262 rs147138832 |
752 | N>S | No |
ClinGen ESP |
|
| TCGA novel | 753 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376496661 rs1391160328 |
753 | A>T | No |
ClinGen gnomAD |
|
|
rs553396891 CA5462064 |
754 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453752189 CA376496630 |
755 | K>N | No |
ClinGen gnomAD |
|
|
rs1253512015 COSM917735 CA376496619 |
757 | E>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1194416338 CA376496616 |
757 | E>V | No |
ClinGen gnomAD |
|
|
rs915005712 CA205747243 |
758 | P>L | No |
ClinGen Ensembl |
|
|
CA376496598 rs1592237287 |
760 | Q>P | No |
ClinGen Ensembl |
|
|
rs750180294 CA5462043 |
761 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA376496592 rs560222995 |
761 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5462042 rs560222995 |
761 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754275026 CA5462041 |
763 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5462040 rs754275026 |
763 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1039299138 CA205747241 |
763 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 765 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5462037 rs34750454 |
765 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771513913 CA5462036 |
766 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA5462035 rs763583114 |
767 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs773641302 CA5462034 |
768 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1382454971 CA376496539 |
770 | R>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 771 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376496494 rs1253159194 |
777 | Q>E | No |
ClinGen TOPMed |
|
|
rs374026928 CA205747239 |
779 | T>I | No |
ClinGen ESP TOPMed |
|
|
rs1433839372 CA376496473 |
780 | M>V | No |
ClinGen gnomAD |
|
|
CA376496460 rs1367968136 |
781 | Q>H | No |
ClinGen gnomAD |
|
|
CA5462031 rs576654881 |
781 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376496454 rs1175447865 |
782 | I>T | No |
ClinGen gnomAD |
|
|
rs1474354871 CA376496450 |
783 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1358722168 CA376496436 |
785 | R>* | No |
ClinGen Ensembl |
|
|
CA5462030 rs768974025 |
785 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376496392 rs1340870668 |
790 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs772125769 CA5462009 |
791 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294946342 COSM136783 CA376496335 |
798 | R>* | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs998892661 CA376496333 |
798 | R>L | No |
ClinGen gnomAD |
|
|
rs998892661 CA205747154 COSM1347608 |
798 | R>Q | Variant assessed as Somatic; 4.887e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1177496532 CA376496329 |
799 | M>T | No |
ClinGen Ensembl |
|
|
rs778789728 CA5462007 |
799 | M>V | No |
ClinGen ExAC |
|
|
rs1235441125 CA376496312 |
801 | Y>* | No |
ClinGen TOPMed |
|
|
rs748984702 COSM1297216 CA5462005 |
801 | Y>C | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs777652916 CA5462004 |
802 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs374446657 CA5462003 |
803 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1162818069 CA376496296 |
804 | I>V | No |
ClinGen gnomAD |
|
|
CA376496284 rs767333245 |
806 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs767333245 CA5462001 |
806 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5462000 rs754510617 |
809 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1482608197 CA376496225 |
815 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 817 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765616066 CA5461998 |
819 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs370075636 CA5461996 |
820 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201424206 CA5461995 |
821 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA205747152 rs201424206 |
821 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1346408037 CA376496186 |
821 | N>Y | No |
ClinGen TOPMed |
|
|
CA205747151 rs974173371 |
822 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1270766084 CA376496177 |
822 | I>T | No |
ClinGen gnomAD |
|
|
rs1335132233 CA376496173 |
823 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1335132233 CA376496174 |
823 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1592235907 CA376496145 |
827 | V>A | No |
ClinGen Ensembl |
|
|
rs1349688615 CA376496128 |
829 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1279858018 CA376496115 |
831 | Q>R | No |
ClinGen gnomAD |
|
|
CA376496108 rs1444321086 |
832 | I>T | No |
ClinGen gnomAD |
|
|
rs764510494 CA205747150 |
832 | I>V | No |
ClinGen TOPMed |
|
|
rs1239952286 CA376496065 |
839 | E>Q | No |
ClinGen TOPMed |
|
|
rs1432848933 CA376496038 |
843 | I>V | No |
ClinGen TOPMed |
|
|
CA5461991 rs137966750 |
844 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761111654 CA5461989 |
845 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369923596 CA5461988 |
846 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147089005 CA5461987 |
846 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 847 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q8IWW6
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| phagocytic cup | An invagination of the cell membrane formed by an actin dependent process during phagocytosis. Following internalization it is converted into a phagosome. |
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. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| actin filament organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking. |
| morphogenesis of an epithelial sheet | The process in which the anatomical structures of an epithelial sheet are generated and organized. An epithelial sheet is a flat surface consisting of closely packed epithelial cells. |
| negative regulation of small GTPase mediated signal transduction | Any process that stops, prevents, or reduces the frequency, rate or extent of small GTPase mediated signal transduction. |
| phagocytosis, engulfment | The internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis, including the membrane and cytoskeletal processes required, which involves one of three mechanisms: zippering of pseudopods around a target via repeated receptor-ligand interactions, sinking of the target directly into plasma membrane of the phagocytosing cell, or induced uptake via an enhanced membrane ruffling of the phagocytosing cell similar to macropinocytosis. |
| regulation of GTPase activity | Any process that modulates the rate of GTP hydrolysis by a GTPase. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKMADRSGKI | IPGQVYIEVE | YDYEYEAKDR | KIVIKQGERY | ILVKKTNDDW | WQVKPDENSK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AFYVPAQYVK | EVTRKALMPP | VKQVAGLPNN | STKIMQSLHL | QRSTENVNKL | PELSSFGKPS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SSVQGTGLIR | DANQNFGPSY | NQGQTVNLSL | DLTHNNGKFN | NDSHSPKVSS | QNRTRSFGHF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PGPEFLDVEK | TSFSQEQSCD | SAGEGSERIH | QDSESGDELS | SSSTEQIRAT | TPPNQGRPDS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PVYANLQELK | ISQSALPPLP | GSPAIQINGE | WETHKDSSGR | CYYYNRGTQE | RTWKPPRWTR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DASISKGDFQ | NPGDQELLSS | EENYYSTSYS | QSDSQCGSPP | RGWSEELDER | GHTLYTSDYT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NEKWLKHVDD | QGRQYYYSAD | GSRSEWELPK | YNASSQQQRE | IIKSRSLDRR | LQEPIVLTKW |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RHSTIVLDTN | DKESPTASKP | CFPENESSPS | SPKHQDTASS | PKDQEKYGLL | NVTKIAENGK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KVRKNWLSSW | AVLQGSSLLF | TKTQGSSTSW | FGSNQSKPEF | TVDLKGATIE | MASKDKSSKK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NVFELKTRQG | TELLIQSDND | TVINDWFKVL | SSTINNQAVE | TDEGIEEEIP | DSPGIEKHDK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EKEQKDPKKL | RSFKVSSIDS | SEQKKTKKNL | KKFLTRRPTL | QAVREKGYIK | DQVFGSNLAN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LCQRENGTVP | KFVKLCIEHV | EEHGLDIDGI | YRVSGNLAVI | QKLRFAVNHD | EKLDLNDSKW |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EDIHVITGAL | KMFFRELPEP | LFTFNHFNDF | VNAIKQEPRQ | RVAAVKDLIR | QLPKPNQDTM |
| 790 | 800 | 810 | 820 | 830 | 840 |
| QILFRHLRRV | IENGEKNRMT | YQSIAIVFGP | TLLKPEKETG | NIAVHTVYQN | QIVELILLEL |
| SSIFGR |