A1IGU5
PR
Gene name |
ARHGEF37 |
Protein name |
Rho guanine nucleotide exchange factor 37 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:389337 |
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 A1IGU5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A1IGU5-F1 | Predicted | AlphaFoldDB |
605 variants for A1IGU5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs371112677 CA3502559 |
5 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3502561 rs367666999 |
7 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3502563 rs371788725 |
7 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3502562 rs367666999 |
7 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764275103 CA3502565 |
8 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3502566 rs753993384 |
10 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361689965 rs1264145632 |
12 | R>S | No |
ClinGen gnomAD |
|
|
CA361689981 rs1219690050 |
13 | S>L | No |
ClinGen TOPMed |
|
|
rs1206309406 CA361689995 |
14 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs202168850 CA3502569 |
15 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1279737787 CA361690011 |
15 | S>N | No |
ClinGen TOPMed |
|
|
CA3502570 COSM1637406 rs750669050 |
16 | P>L | bone [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 18 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1423818031 CA361690117 |
21 | R>S | No |
ClinGen gnomAD |
|
|
CA361690155 rs1366645638 |
23 | S>F | No |
ClinGen gnomAD |
|
|
CA3502573 rs748153413 |
24 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs202106229 CA3502574 |
25 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3502576 rs748814270 |
27 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3502575 rs200589667 |
27 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA129044865 rs200589667 |
27 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3502579 rs774059450 |
30 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 31 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199767707 CA3502580 |
34 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3502582 rs372262596 |
36 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3502581 rs768240553 |
36 | R>W | Variant assessed as Somatic; 0.000654 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761050803 CA3502583 |
38 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1340425169 CA361690331 |
39 | I>F | No |
ClinGen gnomAD |
|
|
rs1183727797 CA361690332 |
39 | I>N | No |
ClinGen TOPMed |
|
|
CA129044899 rs1028802930 |
40 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA361690360 rs1237453305 |
43 | V>F | No |
ClinGen TOPMed |
|
|
CA361690370 rs754328535 |
44 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3502586 rs754328535 |
44 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762049450 CA3502587 |
48 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1163315321 CA361690404 |
49 | L>F | No |
ClinGen Ensembl |
|
|
rs1443961278 CA361690406 |
49 | L>H | No |
ClinGen gnomAD |
|
| TCGA novel | 49 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1189091068 CA361690410 |
50 | Q>* | No |
ClinGen gnomAD |
|
|
CA3502588 rs765392516 |
51 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs750720565 CA3502589 |
52 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs758513645 CA3502590 |
53 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199543277 CA3502591 |
54 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199543277 CA361690437 |
54 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1467681578 CA361690440 |
55 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 56 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405378180 CA361690467 |
58 | S>R | No |
ClinGen gnomAD |
|
|
CA3502593 rs200527896 |
59 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368868273 CA3502594 |
59 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3502595 rs368868273 |
59 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3502596 rs756819749 |
61 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs200052393 CA3502613 |
64 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3502617 rs779637510 |
66 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs373387739 CA3502616 |
66 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769189366 CA3502619 |
67 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA361691109 rs1289703420 |
68 | L>P | No |
ClinGen gnomAD |
|
|
rs1347870731 CA361691142 |
72 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA361691161 rs748480032 |
75 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA3502621 rs748480032 |
75 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3502620 rs777101924 |
75 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3502623 rs199755021 |
77 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3502622 rs377750156 |
77 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1192738132 CA361691179 |
78 | I>T | No |
ClinGen TOPMed |
|
|
rs1050988766 CA129046643 |
78 | I>V | No |
ClinGen Ensembl |
|
|
CA129046650 rs1051556448 |
79 | I>T | No |
ClinGen TOPMed |
|
|
CA3502625 rs771041255 |
80 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA361691211 rs1184570207 |
83 | S>G | No |
ClinGen gnomAD |
|
|
CA3502626 rs774497361 |
83 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA361691229 rs1252626217 |
85 | F>C | No |
ClinGen TOPMed |
|
|
CA3502627 rs759783416 |
87 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs753663967 CA3502629 |
88 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763918137 CA3502628 |
88 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA3502630 rs761548819 |
89 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs750369515 CA3502632 |
90 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 90 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361691263 rs1309397418 |
91 | E>* | No |
ClinGen gnomAD |
|
|
rs180856185 CA3502633 |
92 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3502634 rs779592089 |
92 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1381230041 CA361691278 |
93 | A>D | No |
ClinGen gnomAD |
|
|
CA3502635 rs751208682 |
95 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA129046689 rs900546465 |
95 | K>R | No |
ClinGen gnomAD |
|
|
rs900546465 CA361691288 |
95 | K>T | No |
ClinGen gnomAD |
|
|
CA3502636 rs754706750 |
97 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA129046704 rs1011002054 |
99 | Q>E | No |
ClinGen TOPMed |
|
|
CA361691315 rs1011002054 |
99 | Q>K | No |
ClinGen TOPMed |
|
|
rs780939369 CA3502637 |
100 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3502638 rs748533249 |
101 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3502664 rs779240141 |
104 | G>A | No |
ClinGen ExAC |
|
|
rs745962223 CA361677446 |
106 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3502665 rs745962223 |
106 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775747437 CA3502667 |
107 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769516002 CA3502669 |
109 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361677514 rs1459784315 |
113 | E>D | No |
ClinGen TOPMed |
|
|
rs763759986 CA3502670 |
113 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs762602211 CA3502671 |
114 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA3502672 rs766350831 |
114 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3502673 rs774360779 |
115 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA361677578 rs759187419 |
118 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759187419 CA3502674 |
118 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269361436 CA361677633 |
122 | C>Y | No |
ClinGen gnomAD |
|
|
rs752450261 CA3502676 |
123 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3502678 rs763614397 |
126 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3502681 rs201372727 |
134 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361677809 rs1229141748 |
135 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA129040827 rs71586130 |
136 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3502684 rs71586130 |
136 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3502683 rs758522672 |
136 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1218598922 CA361677832 |
137 | K>Q | No |
ClinGen gnomAD |
|
|
rs969326032 CA129040831 COSM590621 |
138 | E>D | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA3502686 rs116647383 |
139 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3502685 rs191767825 |
139 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749111091 CA3502688 |
141 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA129040858 rs531304012 |
142 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs201086927 CA3502690 |
143 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1064179 rs770631740 CA3502689 |
143 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA361677977 rs1458069577 |
145 | I>N | No |
ClinGen TOPMed |
|
|
rs572702175 CA3502691 |
146 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3502692 rs572702175 |
146 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361678045 rs1489734091 |
149 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs202150562 CA3502693 |
149 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs202150562 CA129040873 |
149 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367808249 CA361678076 |
151 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376896241 CA3502694 |
151 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs367808249 CA3502695 |
151 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564837365 CA3502697 |
152 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs564837365 CA361678092 |
152 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361678110 rs1580918627 |
153 | V>G | No |
ClinGen Ensembl |
|
|
rs765561493 CA3502698 |
153 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs765561493 CA361678097 |
153 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3502726 rs144941254 |
154 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3502727 rs144941254 |
154 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1351794498 CA361680534 |
155 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA3502731 rs748748676 |
156 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772780795 CA3502733 |
157 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 158 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372847438 CA3502734 |
160 | G>D | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA3502735 rs372847438 |
160 | G>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA3502736 rs752160787 |
163 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA3502738 rs768033413 |
163 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3502737 rs752160787 |
163 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA3502739 rs752746755 |
165 | L>P | No |
ClinGen ExAC |
|
|
CA361680738 rs1580926184 |
166 | V>A | No |
ClinGen Ensembl |
|
|
rs756205566 CA3502740 |
166 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA361680743 rs1378288619 |
167 | I>V | No |
ClinGen gnomAD |
|
|
CA3502741 rs778147068 |
169 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754110058 CA3502742 |
171 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs1488004927 CA361680804 |
171 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs758328492 CA3502743 |
172 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA129044448 rs916157684 |
174 | R>K | No |
ClinGen TOPMed |
|
|
rs1291021438 CA361680857 |
175 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA129044457 rs376250192 |
175 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376250192 CA3502744 |
175 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 175 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3502746 rs746777805 |
176 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3502745 rs746777805 |
176 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3502747 rs781122430 |
177 | L>V | No |
ClinGen ExAC |
|
|
CA3502749 rs769286218 |
185 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 190 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748920465 CA3502752 |
190 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1726465 CA361681057 rs1243640441 CA361681054 |
191 | S>R | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3502753 rs771328243 |
191 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 192 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs971613554 CA129044495 |
194 | P>S | No |
ClinGen Ensembl |
|
|
CA3502754 rs774613785 |
195 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA361681126 rs1186203658 |
196 | L>F | No |
ClinGen gnomAD |
|
|
CA3502756 rs549749520 |
197 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3502755 rs759899916 |
197 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs200008755 CA3502757 |
198 | R>T | No |
ClinGen 1000Genomes ExAC |
|
|
CA361681229 rs1580926374 |
200 | V>L | No |
ClinGen Ensembl |
|
|
rs1561804456 CA361681275 |
202 | A>T | No |
ClinGen Ensembl |
|
|
rs760906201 CA3502758 |
204 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs202046872 COSM205925 CA3502761 |
206 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs765449143 CA3502762 |
207 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377700294 CA129044533 |
209 | N>S | No |
ClinGen ESP |
|
|
rs751325250 CA3502763 |
210 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA361681518 rs1345727536 |
211 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1424900318 CA361681568 |
214 | K>Q | No |
ClinGen gnomAD |
|
|
rs774206558 CA129044580 |
215 | M>I | No |
ClinGen Ensembl |
|
| TCGA novel | 215 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374655369 CA3502766 |
216 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3502767 rs547194661 |
216 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547194661 CA361681642 |
216 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361681639 rs547194661 |
216 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3502765 rs374655369 |
216 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3502768 rs777235848 |
217 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 220 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1231200550 CA361682248 |
222 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA361682249 rs1231200550 |
222 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1387489669 CA361682273 |
224 | T>A | No |
ClinGen gnomAD |
|
|
CA3502790 rs778497862 |
226 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs745522900 CA3502791 |
228 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361682340 rs1384185285 |
228 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA129045384 rs745522900 |
228 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361682341 rs1410087607 |
229 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA361682362 rs1352219511 |
230 | T>S | No |
ClinGen gnomAD |
|
|
rs1302075062 CA361682364 |
231 | L>V | No |
ClinGen TOPMed |
|
|
rs777212007 CA3502796 |
232 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3502794 rs370687849 |
232 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3502798 rs769900682 |
234 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1739130 rs567909765 CA3502797 |
234 | R>W | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1437259902 CA361682412 |
235 | L>R | No |
ClinGen gnomAD |
|
|
CA3502799 rs773351638 |
235 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3502801 rs766473377 |
236 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs528783472 CA129045483 |
236 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs752514789 CA3502802 |
237 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752514789 CA361682430 |
237 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3409991 rs760408305 CA3502803 |
237 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA129045511 rs760408305 |
237 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760408305 CA361682434 |
237 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764028089 CA3502804 |
238 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs764028089 CA129045512 |
238 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs200332555 CA3502808 |
239 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3502807 rs756776211 |
239 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753770249 CA3502806 |
239 | N>Y | No |
ClinGen ExAC |
|
|
CA361682473 rs1408848602 |
241 | H>Y | No |
ClinGen gnomAD |
|
|
rs1176620813 CA361682491 |
242 | T>N | No |
ClinGen gnomAD |
|
|
rs1580928033 CA361682485 |
242 | T>P | No |
ClinGen Ensembl |
|
|
CA3502809 rs200547810 |
243 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368490346 CA3502810 |
243 | L>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1208382131 CA361682522 |
245 | K>E | No |
ClinGen TOPMed |
|
|
CA3502812 rs747382328 |
245 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1685073 rs769138267 CA3502813 |
246 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA361682577 rs1433178268 |
248 | T>A | No |
ClinGen gnomAD |
|
|
CA361682572 rs1433178268 |
248 | T>P | No |
ClinGen gnomAD |
|
|
rs1165057493 CA361682589 |
249 | R>Q | No |
ClinGen gnomAD |
|
|
CA3502815 rs372222488 |
249 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs539105513 CA3502816 |
250 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1265591880 CA361682606 |
251 | S>N | No |
ClinGen gnomAD |
|
|
CA3502817 rs375549055 |
252 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs762895130 CA361682631 |
253 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1379735615 CA361682685 |
256 | Q>R | No |
ClinGen TOPMed |
|
|
rs367668023 CA3502819 |
258 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361682742 rs1308919718 |
259 | G>E | No |
ClinGen TOPMed |
|
|
CA361682738 rs1239997637 |
259 | G>W | No |
ClinGen gnomAD |
|
|
CA361682754 rs1580928198 |
260 | L>M | No |
ClinGen Ensembl |
|
|
rs777474731 CA3502821 |
260 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361682832 rs763864634 |
263 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs763864634 CA3502822 |
263 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1481611566 CA3502843 |
264 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs761455984 CA3502845 |
265 | E>K | No |
ClinGen ExAC |
|
|
rs1425536096 CA361683019 |
266 | D>G | No |
ClinGen gnomAD |
|
|
rs753545664 CA129045999 |
267 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1363853231 CA361683035 |
267 | K>N | No |
ClinGen gnomAD |
|
|
rs1404405373 CA361683058 |
268 | E>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 268 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561805747 CA361683039 |
268 | E>K | No |
ClinGen Ensembl |
|
|
rs765224432 CA3502847 |
271 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361683308 rs1179878964 |
277 | Q>* | No |
ClinGen TOPMed |
|
|
rs1279342809 CA361683313 |
277 | Q>R | No |
ClinGen gnomAD |
|
|
CA361683376 rs1222849327 |
280 | S>P | No |
ClinGen gnomAD |
|
|
CA361683399 rs1437366867 |
281 | L>V | No |
ClinGen TOPMed |
|
|
CA3502850 rs762610623 |
283 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA361683460 rs762610623 |
283 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 285 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765961852 CA361683534 |
286 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA3502851 rs765961852 |
286 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3502854 rs767231512 |
290 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs78618835 CA3502855 |
291 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3502856 rs756370096 |
292 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA361683710 rs1333243590 |
295 | D>G | No |
ClinGen TOPMed |
|
|
CA361684085 rs1216220533 |
299 | A>T | No |
ClinGen gnomAD |
|
|
CA3502885 rs769670698 |
304 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3502886 rs377748166 |
305 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA129046928 rs764890882 |
305 | P>S | No |
ClinGen Ensembl |
|
|
rs752176680 CA129046940 |
307 | E>K | No |
ClinGen gnomAD |
|
|
rs774365076 CA3502889 |
308 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3502890 rs759185404 |
309 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361684200 rs1358642192 |
309 | N>S | No |
ClinGen TOPMed |
|
|
CA129046948 rs950777543 |
310 | L>P | No |
ClinGen Ensembl |
|
|
rs1171817857 CA361684233 |
312 | I>N | No |
ClinGen TOPMed |
|
|
CA3502892 rs775265891 |
313 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA361684241 rs775265891 |
313 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs771470070 CA3502891 |
313 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3502894 rs376361501 |
314 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361684245 rs376361501 |
314 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754226747 CA3502895 |
315 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3502897 rs199998590 |
316 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750913018 CA3502898 |
317 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA129046979 rs554363171 |
318 | V>A | No |
ClinGen 1000Genomes |
|
|
CA361684282 rs1205398989 |
318 | V>M | No |
ClinGen gnomAD |
|
|
rs1225338040 CA361684312 |
320 | Y>C | No |
ClinGen gnomAD |
|
|
CA3502899 rs200135754 |
321 | C>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs148496730 CA3502900 |
322 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs75449679 CA129046989 |
323 | L>M | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1262227581 CA361684372 |
325 | R>I | No |
ClinGen gnomAD |
|
|
rs1485036006 CA361684374 |
325 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs751617663 CA3502901 |
326 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1580930724 CA361684392 |
327 | L>F | No |
ClinGen Ensembl |
|
|
rs755177143 CA3502902 |
328 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361684402 rs1269711214 |
328 | H>Y | No |
ClinGen gnomAD |
|
|
CA3502903 rs577543055 |
329 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361684461 rs1420103446 |
331 | A>D | No |
ClinGen gnomAD |
|
|
CA361684449 rs1425041034 |
331 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1425041034 CA361684445 |
331 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1343734493 CA361684475 |
332 | F>L | No |
ClinGen gnomAD |
|
|
rs757167558 CA3502923 |
336 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs139526604 CA3502925 |
338 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3502924 rs778823889 |
338 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs758292615 CA3502926 |
340 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs746564506 CA3502928 |
341 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA3502927 rs779986731 |
341 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 342 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361684733 rs1580932192 |
343 | V>G | No |
ClinGen Ensembl |
|
|
CA361684742 rs1260715426 |
344 | W>* | No |
ClinGen TOPMed |
|
|
CA3502931 rs560081847 CA3502930 |
344 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1397994373 CA361684740 |
344 | W>G | No |
ClinGen gnomAD |
|
|
rs769396372 CA3502932 |
345 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1384637932 CA361684775 |
346 | P>A | No |
ClinGen gnomAD |
|
|
rs773587777 CA3502933 |
347 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3502934 rs763318423 |
349 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs923388142 CA129047517 |
350 | L>V | No |
ClinGen gnomAD |
|
|
rs374376221 CA3502935 |
355 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774919814 CA3502936 |
356 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA3502937 rs759594287 |
359 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA361684970 rs1561807491 |
360 | L>M | No |
ClinGen Ensembl |
|
|
rs1441030979 CA361684992 |
361 | I>N | No |
ClinGen gnomAD |
|
|
CA3502938 rs367882590 |
361 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA129047535 rs931965994 |
363 | K>R | No |
ClinGen Ensembl |
|
|
rs552298903 CA3502939 COSM205926 |
364 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3502940 rs552298903 |
364 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3502941 rs372019080 |
364 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA129047544 rs372019080 |
364 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361685049 rs372019080 |
364 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750202119 CA3502942 |
366 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1401366843 CA361685109 |
368 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 370 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361685137 rs1580932399 |
371 | F>L | No |
ClinGen Ensembl |
|
|
rs1408113663 CA361685169 |
372 | E>G | No |
ClinGen gnomAD |
|
|
rs758147850 CA3502944 |
372 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3502947 rs201114208 |
373 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1064186 rs369500713 CA3502946 |
373 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA361685205 rs1580932449 |
374 | V>G | No |
ClinGen Ensembl |
|
|
rs747608319 CA3502949 |
378 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1224721634 CA361685284 |
379 | L>V | No |
ClinGen gnomAD |
|
|
CA361685338 rs1580932498 |
381 | V>G | No |
ClinGen Ensembl |
|
|
CA361685393 rs1285743051 |
384 | V>L | No |
ClinGen gnomAD |
|
|
rs1479972698 CA361685435 |
386 | Y>C | No |
ClinGen TOPMed |
|
|
CA361685423 rs1200215405 |
386 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA129047601 rs865931085 |
387 | Q>* | No |
ClinGen Ensembl |
|
|
CA361685449 rs771315101 |
387 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771315101 CA3502953 |
387 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774770878 CA3502954 |
388 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760057349 CA3502955 |
388 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs774770878 CA361685469 |
388 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA129047624 rs947381063 |
390 | A>S | No |
ClinGen TOPMed |
|
|
CA3502958 rs149683598 |
391 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3502957 rs149683598 |
391 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754074265 CA3502960 |
392 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3502959 rs200402751 |
392 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3502961 rs762702498 |
394 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3502962 rs568581071 |
394 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751268356 CA3502963 |
395 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA361685649 rs1220017488 |
397 | A>P | No |
ClinGen TOPMed |
|
|
CA361685688 rs1360048397 |
399 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA361685685 rs1296572551 |
399 | N>S | No |
ClinGen gnomAD |
|
|
rs781049357 COSM1435093 CA3502965 |
400 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs760685719 CA129047678 |
401 | L>M | No |
ClinGen Ensembl |
|
|
rs1329877073 CA361685740 |
401 | L>P | No |
ClinGen gnomAD |
|
|
CA361685759 rs1300991845 |
403 | V>M | No |
ClinGen TOPMed |
|
|
rs777350001 CA3502968 |
405 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3502967 rs755615666 |
405 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA361685803 rs755615666 |
405 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3502969 rs748950639 |
406 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1173102041 CA361685997 |
412 | L>M | No |
ClinGen TOPMed |
|
|
CA361686062 rs1268793978 CA361686055 |
414 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs145466373 CA3502970 |
414 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3502971 rs572393830 |
415 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3502973 rs772724355 CA129047705 |
421 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_043579 rs4629585 CA3502972 |
421 | M>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1364230701 CA361686219 COSM1736500 |
421 | M>T | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA361686213 rs4629585 |
421 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361686231 rs1203578797 |
422 | C>R | No |
ClinGen TOPMed |
|
|
rs776076103 CA3502974 |
422 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361686235 rs1458494979 |
422 | C>Y | No |
ClinGen TOPMed |
|
|
CA3502975 rs760908019 |
423 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA361686302 rs776755385 |
424 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361686319 rs1386719105 |
425 | V>A | No |
ClinGen gnomAD |
|
|
CA3502978 rs762121510 |
425 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762121510 CA361686306 |
425 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs180816699 CA3502979 |
426 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361686359 rs1337945092 |
427 | L>F | No |
ClinGen gnomAD |
|
|
CA361686390 rs1445000107 |
428 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1026619843 CA129047732 |
429 | R>W | No |
ClinGen Ensembl |
|
|
rs1308925865 CA361686423 |
430 | D>V | No |
ClinGen gnomAD |
|
|
CA361686441 rs1352571107 |
432 | A>T | No |
ClinGen gnomAD |
|
|
CA3502981 rs200707149 |
434 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3502982 rs767508555 |
435 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA361686506 rs1458961316 |
437 | Q>H | No |
ClinGen gnomAD |
|
|
CA361686493 rs1251110399 |
437 | Q>K | No |
ClinGen gnomAD |
|
|
rs1237295386 CA361686526 |
439 | A>T | No |
ClinGen gnomAD |
|
|
CA3502985 rs755671055 |
439 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA361686540 rs1167108697 |
440 | E>G | No |
ClinGen gnomAD |
|
|
CA3502986 rs777306691 |
441 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs908469154 CA361686594 |
444 | A>P | No |
ClinGen TOPMed |
|
|
CA129047767 rs908469154 |
444 | A>S | No |
ClinGen TOPMed |
|
|
rs908469154 CA361686592 |
444 | A>T | No |
ClinGen TOPMed |
|
|
CA3503000 rs767279772 |
446 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA129048546 rs200438181 |
448 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200394211 CA3503003 |
448 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3503002 rs200438181 |
448 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1231371385 CA361687377 |
448 | H>Y | No |
ClinGen TOPMed |
|
|
rs753405699 CA3503004 |
449 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361687402 rs1291923407 |
450 | H>D | No |
ClinGen gnomAD |
|
|
CA3503006 rs200439928 |
451 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM205927 rs200439928 CA3503007 |
451 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA361687432 rs1205878956 |
453 | E>K | No |
ClinGen gnomAD |
|
|
rs1265497589 CA361687464 |
454 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs371752688 CA3503008 |
458 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs571062071 CA129048563 |
460 | V>A | No |
ClinGen TOPMed |
|
|
rs375127384 CA3503009 |
461 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361687580 rs1304898569 |
461 | E>G | No |
ClinGen TOPMed |
|
|
rs200382749 CA3503012 |
462 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3503013 rs113997100 |
463 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs55915030 CA3503014 |
463 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3503016 rs185740653 |
466 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3503015 rs369747296 |
466 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775287566 CA3503018 |
467 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs775287566 CA3503019 |
467 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 468 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361687704 rs1368253586 |
468 | S>N | No |
ClinGen gnomAD |
|
|
CA3503020 rs764100634 |
468 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA129048593 CA361687739 rs570309463 |
469 | N>K | No |
ClinGen gnomAD |
|
|
CA361687757 rs776430843 CA3503021 |
470 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3503022 rs368884058 |
472 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372584659 CA3503023 |
472 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368884058 CA361687778 |
472 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs533391964 CA3503024 |
473 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1321512108 CA361687789 |
473 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA129048605 rs267600484 |
475 | Q>* | No |
ClinGen Ensembl |
|
|
rs1487374923 CA361687852 |
475 | Q>R | No |
ClinGen gnomAD |
|
|
rs1216019669 CA361687904 |
477 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 479 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3503025 rs758142577 |
479 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3503026 rs766067342 |
482 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1267177185 CA361688041 |
484 | P>L | No |
ClinGen gnomAD |
|
|
rs1189929703 CA361688034 |
484 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1349296167 CA361688047 |
485 | P>A | No |
ClinGen gnomAD |
|
|
CA361688082 rs1158915440 |
487 | T>I | No |
ClinGen gnomAD |
|
|
CA361688091 rs1381803353 |
488 | Q>E | No |
ClinGen gnomAD |
|
| rs772857613 | 489 | P>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_043580 rs9324624 CA3503041 |
489 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1288527445 CA361688881 |
490 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs886725132 CA129049585 |
492 | P>S | No |
ClinGen Ensembl |
|
|
rs1282057529 CA361688931 |
493 | G>E | No |
ClinGen TOPMed |
|
|
rs762482503 CA3503043 |
493 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751157931 CA3503045 |
494 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA129049593 rs762092448 |
494 | S>T | No |
ClinGen Ensembl |
|
|
CA3503046 rs759992132 |
495 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs767741283 CA3503047 |
496 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3503048 rs753066620 |
496 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1045140812 CA129049600 |
497 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA361689003 rs1580938501 |
498 | V>L | No |
ClinGen Ensembl |
|
|
rs1370460020 CA361689016 |
499 | Q>P | No |
ClinGen TOPMed |
|
|
CA361689032 rs1285001154 |
500 | A>V | No |
ClinGen gnomAD |
|
|
CA361689034 rs1381484396 |
501 | L>F | No |
ClinGen gnomAD |
|
|
rs753923205 CA361689101 |
505 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA3503050 rs778194983 |
505 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3503052 rs370902953 |
507 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1310838 CA361689117 rs370902953 |
507 | P>R | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3503054 rs746059546 |
508 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779168354 CA3503053 |
508 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA129049620 rs996301352 |
509 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 511 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1179642200 CA361689155 |
511 | Y>C | No |
ClinGen gnomAD |
|
|
rs1386031338 CA361689180 |
513 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3503057 rs780868133 |
513 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3503059 rs373846122 |
514 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373846122 CA3503058 |
514 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373846122 CA361689188 |
514 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 515 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 516 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361689236 rs7732714 |
518 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3503061 rs78819112 |
518 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3503060 rs7732714 VAR_043581 |
518 | S>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3503062 rs770543054 |
520 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1282224678 CA361689275 |
521 | G>V | No |
ClinGen TOPMed |
|
|
CA3503066 rs767149925 |
528 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3503069 rs199830230 COSM1064187 |
529 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3503068 rs201632067 |
529 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3503070 rs754332948 |
530 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1028066759 CA129049668 |
532 | I>V | No |
ClinGen TOPMed |
|
|
CA361689491 rs750465176 |
533 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3503073 rs750465176 |
533 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758558572 CA3503074 |
534 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA129049676 rs947939532 |
535 | I>V | No |
ClinGen TOPMed |
|
|
CA129049679 rs1044855975 |
536 | L>F | No |
ClinGen Ensembl |
|
|
rs556499086 CA3503075 |
537 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3503076 rs747956524 |
541 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs373710218 CA361689636 |
541 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3503077 rs373710218 |
541 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs777904977 CA3503078 |
542 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs368410689 CA3503079 |
543 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745325357 CA3503082 |
546 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773756400 CA3503081 |
546 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs745325357 CA361689759 |
546 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA3503083 rs201376691 |
547 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775205811 CA3503084 COSM1183531 |
547 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs775205811 CA361689763 |
547 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA129049708 rs113257120 |
548 | W>* | No |
ClinGen Ensembl |
|
|
CA361689777 rs1561810988 |
548 | W>G | No |
ClinGen Ensembl |
|
| TCGA novel | 548 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361689825 rs1580938901 |
550 | V>G | No |
ClinGen Ensembl |
|
|
rs1276991560 CA361689823 |
550 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3503086 rs764425139 |
552 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361689870 rs764425139 COSM387604 |
552 | T>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs762326314 CA3503089 |
553 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3503127 rs543805061 |
555 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773629699 CA3503128 |
556 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779590644 CA3503129 |
556 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258539437 CA361690634 |
557 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1339182254 CA361690659 |
559 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3503131 rs377692517 |
560 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM205928 rs767920437 CA3503133 |
561 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3503134 rs752955154 |
562 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1580940830 CA361690692 |
563 | K>E | No |
ClinGen Ensembl |
|
|
CA361690714 rs1475176202 |
565 | Q>* | No |
ClinGen gnomAD |
|
|
rs765052843 CA361690726 |
565 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA361690721 rs1347514993 |
565 | Q>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 567 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361690760 rs1446118327 |
569 | V>M | No |
ClinGen TOPMed |
|
|
CA361690776 rs1464369901 |
570 | V>A | No |
ClinGen gnomAD |
|
|
rs374649841 CA3503137 |
570 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 570 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361690783 rs1488663917 |
571 | P>A | No |
ClinGen gnomAD |
|
|
rs377386792 CA3503138 |
571 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361690789 rs1261086926 |
572 | S>G | No |
ClinGen gnomAD |
|
|
CA3503139 rs779896045 |
573 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1041142068 CA129050336 |
573 | A>S | No |
ClinGen TOPMed |
|
|
CA3503140 rs374654251 |
577 | R>T | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 578 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561812171 CA361690870 |
579 | Q>L | No |
ClinGen Ensembl |
|
|
CA3503142 rs780869285 |
580 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1232673972 CA361690882 |
580 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA361690923 rs1477485026 |
584 | K>E | No |
ClinGen gnomAD |
|
|
CA3503146 rs749557680 |
585 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA361690944 rs3733662 |
586 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361690946 rs1202336458 |
586 | P>L | No |
ClinGen gnomAD |
|
|
rs3733662 VAR_043582 CA3503147 |
586 | P>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3503148 rs774994544 |
587 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759749530 CA3503150 |
587 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759749530 CA3503149 |
587 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361690951 rs1398922785 |
588 | C>S | No |
ClinGen Ensembl |
|
|
CA3503152 rs542138328 |
589 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764177626 CA3503153 |
591 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034704463 CA129050373 |
592 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA361690981 rs1295853396 |
593 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1053870734 CA361690991 |
594 | S>I | No |
ClinGen TOPMed |
|
|
CA129050374 rs1053870734 |
594 | S>N | No |
ClinGen TOPMed |
|
|
rs1561812271 CA361691000 |
596 | A>T | No |
ClinGen Ensembl |
|
|
rs1373137232 CA361691043 |
600 | S>P | No |
ClinGen gnomAD |
|
|
rs374302061 CA3503156 |
603 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361691079 rs1135093 |
604 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3503159 rs372222017 |
604 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA3503158 VAR_043583 rs1135093 |
604 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3503160 rs752099085 |
605 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371345198 CA361691421 |
607 | V>D | No |
ClinGen gnomAD |
|
| TCGA novel | 609 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3503188 rs759279132 |
610 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776949148 CA3503189 |
610 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3503191 rs769954178 |
611 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361691459 rs1580944582 |
611 | Y>S | No |
ClinGen Ensembl |
|
|
rs1387024104 CA361691479 |
612 | P>L | No |
ClinGen TOPMed |
|
|
rs774145075 CA3503192 |
613 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1156737281 CA361691496 |
614 | V>L | No |
ClinGen TOPMed |
|
|
rs759259812 CA3503193 |
616 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1472162292 CA361691538 |
618 | S>G | No |
ClinGen TOPMed |
|
|
CA3503194 rs369725425 |
619 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760282305 CA3503197 |
622 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA361691593 rs1425541962 |
622 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1580944657 CA361691609 |
624 | Q>* | No |
ClinGen Ensembl |
|
|
CA361691627 rs1416943213 |
625 | A>V | No |
ClinGen gnomAD |
|
|
CA129051550 rs557505773 |
626 | G>D | No |
ClinGen 1000Genomes |
|
|
rs1465929018 CA361691650 |
628 | P>A | No |
ClinGen gnomAD |
|
|
CA361691674 rs1449272183 |
630 | T>S | No |
ClinGen TOPMed |
|
|
CA361691680 rs1156404381 |
631 | I>V | No |
ClinGen gnomAD |
|
|
CA3503198 rs763482619 |
633 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs896028387 CA129051556 |
635 | Q>K | No |
ClinGen gnomAD |
|
|
CA3503199 rs769278960 |
635 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761583141 CA3503200 |
637 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 638 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764928675 CA3503201 |
640 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs750826504 CA3503202 |
640 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs758818766 CA361691796 CA3503203 |
640 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319153178 CA361691799 |
641 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3503204 rs780656297 |
643 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780656297 CA361691833 |
643 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3503205 rs751976432 |
644 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327639175 CA361691853 |
645 | L>R | No |
ClinGen TOPMed |
|
|
CA129051572 rs905023069 |
647 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA129051575 rs775072928 |
648 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 649 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA129051582 rs377536943 |
651 | Q>E | No |
ClinGen TOPMed |
|
|
CA361691910 rs377536943 |
651 | Q>K | No |
ClinGen TOPMed |
|
|
rs748166544 CA361691921 |
652 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs748166544 CA3503208 |
652 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs770007548 CA3503209 |
653 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA361691948 rs1256749282 |
656 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1413029198 CA361691959 |
658 | G>V | No |
ClinGen TOPMed |
|
|
CA361691981 rs1424688618 |
661 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA129051596 rs1003369105 |
663 | A>V | No |
ClinGen TOPMed |
|
|
CA3503212 rs771743680 |
664 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3503211 COSM238839 rs745720450 |
664 | R>W | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3503215 rs775539556 COSM117913 |
671 | W>* | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs775539556 CA3503214 |
671 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA129051608 rs377752062 |
674 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA361692110 rs1413034325 |
675 | S>F | No |
ClinGen gnomAD |
|
|
CA3503216 CA3503217 rs369054820 |
676 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with A1IGU5
1 regional properties for A1IGU5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Ets domain | 4 - 90 | IPR000418 |
1 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q58DL7 | ARHGEF9 | Rho guanine nucleotide exchange factor 9 | Bos taurus (Bovine) | SS |
| O43307 | ARHGEF9 | Rho guanine nucleotide exchange factor 9 | Homo sapiens (Human) | SS |
| Q70Z35 | PREX2 | Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein | Homo sapiens (Human) | SS |
| Q9NR80 | ARHGEF4 | Rho guanine nucleotide exchange factor 4 | Homo sapiens (Human) | EV |
| Q8TCU6 | PREX1 | Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein | Homo sapiens (Human) | EV |
| Q96N96 | SPATA13 | Spermatogenesis-associated protein 13 | Homo sapiens (Human) | EV |
| Q6XZF7 | DNMBP | Dynamin-binding protein | Homo sapiens (Human) | PR |
| Q5DU57 | Spata13 | Spermatogenesis-associated protein 13 | Mus musculus (Mouse) | SS |
| Q3LAC4 | Prex2 | Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein | Mus musculus (Mouse) | SS |
| Q7TNR9 | Arhgef4 | Rho guanine nucleotide exchange factor 4 | Mus musculus (Mouse) | EV |
| Q69ZK0 | Prex1 | Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein | Mus musculus (Mouse) | SS |
| Q3UTH8 | Arhgef9 | Rho guanine nucleotide exchange factor 9 | Mus musculus (Mouse) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAKHGADEPS | SRSGSPDREG | RASEDRSLLH | QRLAVRELID | TEVSYLHMLQ | LCASDIRSRL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QQLPQGDLDV | LFSNIDDIIK | VNSRFLHDLQ | ETASKEEEQV | QLVGNIFLEF | QEELEQVYKV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YCASYDQALL | LVDTYRKEPE | LQRHIQGIVE | AVVPQAGSSG | LSFLLVIPLQ | RITRYPLLLQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KILENTVPDA | SAYPVLQRAV | SALQDVNTNI | NEYKMRKEVA | SKYTKVEQLT | LRERLARINT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HTLSKKTTRL | SQLLKQEAGL | IPRTEDKEFD | DLEERFQWVS | LCVTELKNNV | AAYLDNLQAF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LYFRPHEYNL | DIPEGPAVQY | CNLARDLHLE | AFLKFKQRLE | GLVWQPLCSL | AKALLGPQNL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IKKRLDKLLD | FERVEEKLLE | VGSVTYQEEA | ARHTYQALNS | LLVAELPQFN | QLVMQWLGQI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MCTFVTLQRD | LAKQVLQRAE | GSMAQLPHHH | VPEPAFRKLV | EDALGRTSNQ | LRSFQETFEK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VQPPPTTQPL | LPGSERQVQA | LLSRYGPGKL | YQVTSNISGT | GTLDLTLPRG | QIVAILQNKD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TKGNSGRWLV | DTGGHRGYVP | AGKLQLYHVV | PSAEELRRQA | GLNKDPRCLT | PEPSPALVPS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| IPTMNQVIAA | YPFVARSSHE | VSLQAGQPVT | ILEAQDKKGN | PEWSLVEVNG | QRGYVPSGFL |
| 670 | |||||
| ARARSPVLWG | WSLPS |