Q86VW2
Gene name |
ARHGEF25 (GEFT) |
Protein name |
Rho guanine nucleotide exchange factor 25 |
Names |
Guanine nucleotide exchange factor GEFT, Rac/Cdc42/Rho exchange factor GEFT, RhoA/Rac/Cdc42 guanine nucleotide exchange factor GEFT, p63RhoGEF |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:115557 |
EC number |
|
Protein Class |
RHO GUANINE EXCHANGE FACTOR-RELATED (PTHR22826) |

Descriptions
Dbl-family GEFs are the major class of exchange factors for Rho GTPases. The Dbl-family GEF p63RhoGEF, called ARHGEF25, is a mediator of Gαq/11 signaling to RhoA based on its ability to synergize with Gαq/11 resulting in enhanced RhoA signaling. Activated Gαq directly engages and stimulates ARHGEF25. Basically, ARHGEF25 is autoinhibited by the Dbl homology (DH)-associated pleckstrin homology (PH) domain. Activated Gαq relieves this autoinhibition by interacting with a highly conserved C-terminal extension of the PH domain.
Autoinhibitory domains (AIDs)
Target domain |
155-347 (DH domain) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay, Mutagenesis experiment, Structural analysis |
Accessory elements
No accessory elements
References
- Rojas RJ et al. (2007) "Galphaq directly activates p63RhoGEF and Trio via a conserved extension of the Dbl homology-associated pleckstrin homology domain", The Journal of biological chemistry, 282, 29201-10
- Lutz S et al. (2007) "Structure of Galphaq-p63RhoGEF-RhoA complex reveals a pathway for the activation of RhoA by GPCRs", Science (New York, N.Y.), 318, 1923-7
Autoinhibited structure

Activated structure
2 structures for Q86VW2
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
2RGN | X-ray | 350 A | B/E | 149-502 | PDB |
AF-Q86VW2-F1 | Predicted | AlphaFoldDB |
466 variants for Q86VW2
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA385539375 rs1594958073 |
2 | R>G | No |
ClinGen Ensembl |
|
CA385539381 rs60586224 |
2 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6654103 rs60586224 |
2 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs60586224 CA6654102 |
2 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs751372589 CA6654107 |
3 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA237810061 rs539901025 |
3 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6654106 rs539901025 |
3 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs770018674 CA6654111 |
4 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770018674 CA385539413 |
4 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA237810066 rs748042670 |
4 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770018674 CA6654112 |
4 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6654110 rs748042670 |
4 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs374654393 CA6654113 |
7 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385539527 rs1425569555 |
9 | R>H | No |
ClinGen gnomAD |
|
rs1476701414 CA385539559 |
11 | A>T | No |
ClinGen gnomAD |
|
CA385539617 rs1466619016 |
13 | P>L | No |
ClinGen gnomAD |
|
rs866562446 CA237810072 |
14 | R>H | No |
ClinGen Ensembl |
|
CA385539741 rs1565725857 |
18 | K>Q | No |
ClinGen Ensembl |
|
CA6654118 rs772410817 |
19 | V>L | No |
ClinGen ExAC gnomAD |
|
CA385539811 rs1472024007 |
21 | A>T | No |
ClinGen TOPMed |
|
rs761119691 CA6654120 |
21 | A>V | No |
ClinGen ExAC gnomAD |
|
rs909572575 CA237810081 |
24 | G>C | No |
ClinGen TOPMed |
|
rs909572575 CA385539917 |
24 | G>S | No |
ClinGen TOPMed |
|
rs941002090 CA237810083 |
24 | G>V | No |
ClinGen Ensembl |
|
CA385540002 rs1594958193 |
25 | C>W | No |
ClinGen Ensembl |
|
rs141989565 CA237810086 |
28 | A>P | No |
ClinGen TOPMed |
|
CA385540092 rs141989565 |
28 | A>S | No |
ClinGen TOPMed |
|
CA6654124 rs749987642 |
29 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs764755815 CA6654123 |
29 | R>W | No |
ClinGen ExAC TOPMed |
|
CA385540170 rs1223901092 |
30 | G>V | No |
ClinGen TOPMed |
|
rs1277199432 CA385540157 |
30 | G>W | No |
ClinGen gnomAD |
|
CA6654126 rs766016732 |
31 | G>R | No |
ClinGen ExAC gnomAD |
|
CA385540219 rs1322353675 |
31 | G>V | No |
ClinGen TOPMed |
|
CA385540234 rs1237013003 |
32 | R>H | No |
ClinGen TOPMed |
|
CA385540235 rs1237013003 |
32 | R>L | No |
ClinGen TOPMed |
|
rs927689400 CA237810094 |
32 | R>S | No |
ClinGen TOPMed gnomAD |
|
CA385541426 rs1193170599 |
34 | S>F | No |
ClinGen gnomAD |
|
rs759188636 CA6654147 |
34 | S>T | No |
ClinGen ExAC gnomAD |
|
CA6654148 rs144451436 |
35 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs936283782 CA237810310 |
36 | S>F | No |
ClinGen TOPMed |
|
rs1179265081 CA385541461 |
37 | I>F | No |
ClinGen gnomAD |
|
rs200472423 CA6654150 |
38 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6654149 rs200472423 |
38 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs139793201 CA6654153 |
41 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
rs1412663943 CA385541522 |
42 | G>R | No |
ClinGen TOPMed |
|
CA6654155 rs746105629 |
44 | I>M | No |
ClinGen ExAC |
|
rs1594959035 CA385541551 |
44 | I>V | No |
ClinGen Ensembl |
|
CA6654156 rs376912565 |
45 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6654157 rs780245693 |
47 | S>F | No |
ClinGen ExAC gnomAD |
|
rs1310888018 CA385541598 |
48 | A>S | No |
ClinGen gnomAD |
|
rs529397542 CA6654158 |
49 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1313286392 CA385541627 |
50 | S>F | No |
ClinGen gnomAD |
|
rs768946799 CA6654159 |
50 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1512825 COSM1512824 rs369276230 CA6654162 |
51 | G>C | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA6654161 rs369276230 |
51 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385541673 rs1468260729 |
54 | A>D | No |
ClinGen gnomAD |
|
rs1468260729 CA385541675 |
54 | A>V | No |
ClinGen gnomAD |
|
CA6654166 rs151122035 |
55 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6654167 rs151122035 |
55 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs151122035 CA6654164 |
55 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA385541783 rs1425941614 |
63 | S>R | No |
ClinGen gnomAD |
|
CA385541780 rs1415098293 |
63 | S>T | No |
ClinGen gnomAD |
|
CA6654169 rs775275007 |
66 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6654170 rs377531308 |
67 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1332916743 CA385541857 |
69 | P>Q | No |
ClinGen gnomAD |
|
rs763923142 CA6654171 |
69 | P>S | No |
ClinGen ExAC gnomAD |
|
rs753845308 CA6654172 |
70 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs533686624 CA6654174 |
71 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs750562465 CA6654175 |
72 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs551752562 CA6654176 |
73 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs551752562 CA385541909 |
73 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6654179 rs140959163 |
75 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6654180 rs781496619 |
76 | S>C | No |
ClinGen ExAC gnomAD |
|
rs1260194034 CA385541966 |
77 | G>D | No |
ClinGen gnomAD |
|
rs748430628 CA6654181 |
78 | L>Q | No |
ClinGen ExAC gnomAD |
|
CA385541991 rs1352426065 |
79 | R>K | No |
ClinGen gnomAD |
|
rs770383336 CA6654182 |
80 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770383336 CA6654183 |
80 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1436539191 CA385542031 |
82 | L>S | No |
ClinGen TOPMed |
|
CA385542027 rs1238120392 |
82 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs199703624 CA6654184 |
83 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
COSM107020 rs150735183 CA237810352 |
85 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs979136030 CA237810350 |
85 | S>P | No |
ClinGen Ensembl |
|
CA385542090 rs1325767391 |
87 | H>Y | No |
ClinGen TOPMed |
|
rs369675789 CA385542118 |
88 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM1363380 COSM1363381 rs771640862 CA6654185 |
88 | C>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs369675789 CA6654186 |
88 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA237810358 rs926144701 |
90 | S>T | No |
ClinGen Ensembl |
|
rs1420944941 CA385542223 |
95 | A>T | No |
ClinGen gnomAD |
|
CA6654188 rs145779061 |
96 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385542236 rs1464651792 |
96 | D>N | No |
ClinGen gnomAD |
|
CA385542277 rs1594959310 |
98 | G>S | No |
ClinGen Ensembl |
|
CA385542308 rs1417595663 |
99 | Q>H | No |
ClinGen TOPMed |
|
CA237810363 rs921491978 |
100 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs531612180 CA237810366 |
100 | A>V | No |
ClinGen Ensembl |
|
rs1445801462 CA385542349 |
101 | G>E | No |
ClinGen gnomAD |
|
rs1445801462 CA385542351 |
101 | G>V | No |
ClinGen gnomAD |
|
CA6654190 rs761488499 |
102 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385542404 rs1340929966 |
104 | E>K | No |
ClinGen gnomAD |
|
CA6654206 rs776131100 |
106 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1038444571 CA237810390 |
111 | A>T | No |
ClinGen Ensembl |
|
rs773228709 CA6654209 |
116 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773228709 CA237810398 |
116 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6654211 rs766273748 |
117 | E>K | No |
ClinGen ExAC gnomAD |
|
CA6654212 rs201573584 |
118 | L>M | No |
ClinGen 1000Genomes ExAC |
|
CA6654215 rs140645509 |
119 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6654214 rs767849431 |
119 | P>T | No |
ClinGen ExAC gnomAD |
|
rs1594959482 CA385542740 |
120 | E>K | No |
ClinGen Ensembl |
|
rs1192390644 CA385542751 |
121 | L>P | No |
ClinGen gnomAD |
|
CA385542765 rs1565726678 |
122 | T>S | No |
ClinGen Ensembl |
|
rs757876691 CA6654219 |
128 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1475675956 CA385542850 |
129 | E>G | No |
ClinGen gnomAD |
|
CA385542866 rs1384011904 |
130 | G>C | No |
ClinGen gnomAD |
|
rs1405689214 CA385542873 |
130 | G>V | No |
ClinGen gnomAD |
|
CA6654222 rs754473725 |
132 | G>* | No |
ClinGen ExAC gnomAD |
|
CA237810419 rs780840561 |
133 | D>E | No |
ClinGen TOPMed |
|
CA385542918 rs1434570805 |
133 | D>N | No |
ClinGen gnomAD |
|
COSM1363383 rs138453741 CA6654223 COSM1363382 |
135 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA385542983 rs577533598 |
136 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6654225 rs577533598 |
136 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs143068244 CA6654241 |
138 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs544973692 CA6654240 |
138 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA237810447 rs868770859 |
141 | E>* | No |
ClinGen Ensembl |
|
CA237810449 rs368208007 |
141 | E>D | No |
ClinGen ESP TOPMed |
|
rs747667238 CA6654242 |
142 | T>I | No |
ClinGen ExAC gnomAD |
|
rs777469251 CA6654245 |
144 | S>F | No |
ClinGen ExAC TOPMed |
|
COSM1363384 COSM1363385 rs755771922 CA6654243 |
144 | S>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA385543308 rs1565726783 |
145 | Q>E | No |
ClinGen Ensembl |
|
rs1315643782 CA385543355 |
146 | A>D | No |
ClinGen TOPMed |
|
CA385543417 rs1565726789 |
148 | E>D | No |
ClinGen Ensembl |
|
CA6654247 rs749148752 |
149 | S>I | No |
ClinGen ExAC gnomAD |
|
CA6654249 rs770647857 |
154 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1189502842 CA385543629 |
155 | K>* | No |
ClinGen TOPMed gnomAD |
|
rs1189502842 CA385543633 |
155 | K>Q | No |
ClinGen TOPMed gnomAD |
|
CA237810468 rs894952649 |
156 | K>E | No |
ClinGen TOPMed gnomAD |
|
CA237810470 rs947921217 |
156 | K>T | No |
ClinGen TOPMed gnomAD |
|
CA6654251 rs561061153 |
157 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA237810473 rs898453360 |
157 | A>T | No |
ClinGen TOPMed |
|
CA6654252 rs561061153 |
157 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6654253 rs775468569 |
160 | R>G | No |
ClinGen ExAC gnomAD |
|
CA6654272 rs780023911 |
162 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385543827 rs1165254996 |
162 | M>L | No |
ClinGen TOPMed |
|
rs1565726843 CA385543852 |
162 | M>T | No |
ClinGen Ensembl |
|
rs527974498 CA6654274 |
163 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6654273 rs747122399 |
163 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385544009 rs1331203984 |
163 | Y>N | No |
ClinGen gnomAD |
|
CA6654275 rs777018043 |
166 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6654276 rs762090159 |
167 | E>K | No |
ClinGen ExAC gnomAD |
|
CA385544201 rs1333168249 |
171 | T>A | No |
ClinGen TOPMed |
|
rs773765910 CA6654279 |
174 | M>T | No |
ClinGen ExAC gnomAD |
|
rs770113774 CA6654278 |
174 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385544356 rs1433843689 |
176 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA385544354 rs1433843689 |
176 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs61935728 COSM268700 CA237810535 |
178 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs61935728 CA385544410 |
178 | D>Y | No |
ClinGen TOPMed |
|
rs147980194 CA6654283 |
181 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA385544461 rs1316851265 |
181 | Q>L | No |
ClinGen TOPMed gnomAD |
|
rs1565727148 CA385544732 |
187 | M>T | No |
ClinGen Ensembl |
|
rs758139060 CA6654306 |
190 | M>I | No |
ClinGen ExAC |
|
CA6654307 rs766160305 |
191 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1341956486 CA385544832 |
192 | A>S | No |
ClinGen TOPMed |
|
CA6654308 rs369247314 |
192 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1429355540 CA385544854 |
193 | Q>P | No |
ClinGen TOPMed |
|
CA6654309 rs755018413 |
194 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385544886 rs1594960352 |
195 | V>G | No |
ClinGen Ensembl |
|
CA237810621 rs373514799 |
196 | P>R | No |
ClinGen ESP TOPMed gnomAD |
|
rs1463355923 CA385544932 |
197 | E>D | No |
ClinGen TOPMed |
|
rs902398268 CA237810623 |
197 | E>K | No |
ClinGen Ensembl |
|
rs1177118328 CA385544944 |
198 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA6654311 rs748306195 |
198 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM549364 rs1474370014 CA385544976 COSM1140232 |
200 | R>* | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs756197273 COSM1253174 CA6654313 COSM1253173 |
200 | R>Q | oesophagus large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1416622579 CA385544999 |
201 | G>D | No |
ClinGen gnomAD |
|
CA385545016 rs1465810929 |
202 | R>C | No |
ClinGen gnomAD |
|
rs777873296 CA6654314 |
204 | R>K | No |
ClinGen ExAC gnomAD |
|
CA6654316 rs771228784 |
211 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs774815529 CA6654317 |
214 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1565727218 CA385545389 COSM694938 COSM1147081 |
217 | H>Y | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA6654320 rs141643619 |
219 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA237810642 rs141643619 |
219 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6654341 rs532231407 |
220 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA385545650 rs1356502299 |
223 | Q>R | No |
ClinGen TOPMed |
|
CA6654344 rs150532634 |
226 | Q>L | No |
ClinGen ESP TOPMed |
|
rs150532634 CA6654343 |
226 | Q>R | No |
ClinGen ESP TOPMed |
|
CA6654347 rs547082119 |
227 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6654346 rs377474244 |
227 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1474798686 CA385545819 |
231 | D>E | No |
ClinGen gnomAD |
|
rs759421652 CA6654349 |
232 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA237810725 rs951176649 |
234 | W>* | No |
ClinGen TOPMed |
|
CA237810727 rs951176649 |
234 | W>C | No |
ClinGen TOPMed |
|
CA385545895 rs1396348759 |
235 | L>V | No |
ClinGen gnomAD |
|
CA6654350 rs767374507 |
236 | A>G | No |
ClinGen ExAC gnomAD |
|
CA237810731 rs974306796 |
236 | A>T | No |
ClinGen Ensembl |
|
CA6654351 rs752715781 |
238 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1378382036 CA385546195 |
243 | E>V | No |
ClinGen gnomAD |
|
CA385546226 rs1278195704 |
244 | R>C | No |
ClinGen gnomAD |
|
rs1350372396 CA385546231 |
244 | R>H | No |
ClinGen gnomAD |
|
CA385546215 rs1278195704 |
244 | R>S | No |
ClinGen gnomAD |
|
rs1259114445 CA385546302 |
248 | M>L | No |
ClinGen TOPMed |
|
CA6654380 rs374554426 |
249 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA237810850 rs900217679 |
253 | C>G | No |
ClinGen Ensembl |
|
CA6654382 rs17857333 |
253 | C>S | No |
ClinGen ExAC TOPMed |
|
CA237810853 VAR_039402 rs17857333 |
253 | C>Y | No |
ClinGen UniProt ExAC TOPMed dbSNP |
|
CA385546459 rs1565727456 |
255 | N>S | No |
ClinGen Ensembl |
|
rs1238235190 CA385546471 |
256 | K>* | No |
ClinGen gnomAD |
|
rs748559108 CA6654383 |
257 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756826304 CA6654384 |
258 | K>T | No |
ClinGen ExAC gnomAD |
|
rs545434777 CA6654388 |
262 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1404632656 CA385548556 |
264 | S>P | No |
ClinGen gnomAD |
|
rs1412171634 CA385548648 |
270 | Y>F | No |
ClinGen gnomAD |
|
rs1417038425 CA385548728 |
273 | E>D | No |
ClinGen TOPMed |
|
rs866129970 CA237810910 |
273 | E>K | No |
ClinGen gnomAD |
|
CA237810913 rs965201958 |
274 | L>V | No |
ClinGen TOPMed |
|
rs1373751027 CA385548746 |
275 | R>Q | No |
ClinGen gnomAD |
|
rs565431564 CA6654403 |
275 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs878927141 CA237810916 |
276 | Q>R | No |
ClinGen Ensembl |
|
rs116792227 CA385548773 |
277 | Q>H | No |
ClinGen 1000Genomes gnomAD |
|
CA237810918 rs116792227 |
277 | Q>H | No |
ClinGen 1000Genomes gnomAD |
|
rs753076748 CA6654404 |
278 | L>V | No |
ClinGen ExAC gnomAD |
|
rs756625592 CA6654405 |
279 | G>V | No |
ClinGen ExAC gnomAD |
|
rs1485139707 CA385548801 |
280 | H>L | No |
ClinGen TOPMed |
|
rs1485139707 CA385548805 |
280 | H>P | No |
ClinGen TOPMed |
|
CA6654407 rs745434149 |
281 | R>C | No |
ClinGen ExAC gnomAD |
|
CA385548818 rs1373989149 |
281 | R>H | No |
ClinGen gnomAD |
|
CA385548819 rs1373989149 |
281 | R>P | No |
ClinGen gnomAD |
|
rs1413819587 CA385548837 |
283 | Q>K | No |
ClinGen gnomAD |
|
rs995795606 CA237810925 |
285 | N>K | No |
ClinGen gnomAD |
|
rs757911470 CA6654408 |
285 | N>S | No |
ClinGen ExAC gnomAD |
|
rs779865792 CA6654409 |
287 | L>F | No |
ClinGen ExAC gnomAD |
|
rs547436770 CA237810931 |
288 | L>V | No |
ClinGen 1000Genomes TOPMed |
|
rs746592951 CA6654411 |
289 | I>T | No |
ClinGen ExAC gnomAD |
|
CA385548942 rs1212907781 |
291 | P>H | No |
ClinGen gnomAD |
|
CA385548943 rs1212907781 |
291 | P>R | No |
ClinGen gnomAD |
|
CA237810944 rs1027230570 |
294 | R>Q | No |
ClinGen gnomAD |
|
rs768526101 CA6654412 |
294 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776329504 CA6654413 |
295 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1176031480 CA385549090 |
303 | K>N | No |
ClinGen gnomAD |
|
rs1454216761 CA385549161 |
305 | F>V | No |
ClinGen gnomAD |
|
CA385549189 rs1160362678 |
306 | L>I | No |
ClinGen gnomAD |
|
rs754646825 CA6654432 |
308 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs965146652 CA237811057 |
310 | N>D | No |
ClinGen TOPMed |
|
COSM1512818 rs1424455112 COSM1512819 CA385549289 |
310 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1157593756 CA385549302 |
311 | R>T | No |
ClinGen gnomAD |
|
CA385549314 rs1448254356 |
312 | A>T | No |
ClinGen TOPMed |
|
CA385549324 rs1565727756 |
312 | A>V | No |
ClinGen Ensembl |
|
CA385549359 rs1394611832 |
314 | M>T | No |
ClinGen gnomAD |
|
CA6654433 rs570006492 |
315 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs747900629 CA6654434 |
316 | T>I | No |
ClinGen ExAC gnomAD |
|
rs747900629 CA237811066 |
316 | T>N | No |
ClinGen ExAC gnomAD |
|
CA385549423 rs1391888500 |
317 | A>E | No |
ClinGen TOPMed gnomAD |
|
CA6654435 rs769521282 |
317 | A>T | No |
ClinGen ExAC gnomAD |
|
CA385549427 rs1391888500 |
317 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA6654449 rs751098474 |
321 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA385549559 rs1205861847 |
322 | A>D | No |
ClinGen gnomAD |
|
CA6654450 rs754446081 |
324 | E>D | No |
ClinGen ExAC gnomAD |
|
CA385549579 rs1253539267 |
324 | E>K | No |
ClinGen gnomAD |
|
rs780721321 CA6654451 |
327 | C>G | No |
ClinGen ExAC gnomAD |
|
rs989235653 CA237811167 |
329 | V>A | No |
ClinGen gnomAD |
|
CA237811180 rs755574255 |
332 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs755574255 CA237811169 |
332 | R>G | No |
ClinGen TOPMed gnomAD |
|
COSM294138 CA6654452 rs752298345 |
332 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1352758268 CA385549751 |
335 | D>N | No |
ClinGen gnomAD |
|
rs749063493 CA6654456 |
336 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6654455 rs749063493 |
336 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777588792 CA6654454 |
336 | M>L | No |
ClinGen ExAC gnomAD |
|
rs1476308162 CA385549791 |
337 | M>L | No |
ClinGen TOPMed |
|
rs542655828 CA6654457 |
338 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1291616071 CA385549877 |
340 | G>R | No |
ClinGen gnomAD |
|
CA385549916 rs1378551862 |
341 | R>I | No |
ClinGen gnomAD |
|
rs760938850 CA6654461 |
343 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6654460 rs147406368 |
343 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs554543726 CA6654462 |
344 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA385549962 rs554543726 |
344 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6654463 rs777183338 |
346 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1452499132 CA385550123 |
348 | K>Q | No |
ClinGen gnomAD |
|
CA6654482 rs139724074 |
351 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385550217 rs139724074 |
351 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385550192 rs1171624787 |
351 | A>T | No |
ClinGen gnomAD |
|
CA237811283 rs1041053842 |
352 | Q>K | No |
ClinGen TOPMed |
|
rs773625202 CA6654483 |
352 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773625202 CA385550239 |
352 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385550253 rs1448817776 |
353 | G>V | No |
ClinGen TOPMed |
|
CA6654484 rs763559683 |
354 | K>E | No |
ClinGen ExAC |
|
CA237811303 rs1025223101 |
355 | L>P | No |
ClinGen Ensembl |
|
CA237811310 rs906562147 |
358 | Q>E | No |
ClinGen Ensembl |
|
rs1594961976 CA385550558 |
364 | T>P | No |
ClinGen Ensembl |
|
rs760177394 CA6654487 |
365 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1308863835 CA385550635 |
367 | E>V | No |
ClinGen TOPMed |
|
CA385550666 rs1273155882 |
369 | G>A | No |
ClinGen TOPMed |
|
CA6654490 rs757021330 |
375 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs373576910 CA6654491 |
375 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385550824 rs1281629612 |
376 | G>V | No |
ClinGen gnomAD |
|
rs1293298145 CA385550843 |
377 | R>* | No |
ClinGen TOPMed |
|
rs375478212 CA6654493 |
377 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375478212 CA385550846 |
377 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385550884 rs1467122427 |
378 | E>D | No |
ClinGen gnomAD |
|
rs780124033 CA6654494 |
378 | E>G | No |
ClinGen ExAC gnomAD |
|
rs79131014 CA6654496 |
380 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA237811363 COSM1363393 COSM1363392 rs1029273163 |
380 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs369900388 CA6654497 COSM3688373 COSM3688374 |
381 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA6654498 rs748362162 |
385 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1396747504 CA385551060 |
385 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA385551063 rs1396747504 |
385 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA385551118 rs1481423058 |
388 | I>V | No |
ClinGen TOPMed |
|
rs1404126919 CA385551135 |
389 | I>V | No |
ClinGen gnomAD |
|
rs200042882 CA6654499 |
392 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs17854492 VAR_039403 CA237811380 |
397 | G>R | No |
ClinGen UniProt Ensembl dbSNP |
|
CA385551399 rs1336739484 |
398 | V>M | No |
ClinGen gnomAD |
|
rs1233057398 CA385551440 |
399 | R>I | No |
ClinGen TOPMed |
|
CA385551455 rs1444733437 |
400 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs1278144259 CA385551536 |
403 | Q>* | No |
ClinGen TOPMed gnomAD |
|
rs987825856 CA237811383 |
403 | Q>R | No |
ClinGen gnomAD |
|
CA6654500 rs142280351 |
404 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385551627 rs1237227344 |
405 | G>V | No |
ClinGen TOPMed |
|
CA385551668 rs1313264484 |
407 | V>A | No |
ClinGen TOPMed |
|
rs771537977 CA6654502 |
408 | Y>F | No |
ClinGen ExAC gnomAD |
|
CA385551678 rs1257043627 |
408 | Y>H | No |
ClinGen TOPMed gnomAD |
|
rs151266618 CA6654504 |
410 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
rs1273563890 CA385551795 |
413 | K>E | No |
ClinGen gnomAD |
|
CA385551914 rs1396636714 |
414 | V>L | No |
ClinGen TOPMed |
|
CA237811452 rs948238996 |
415 | S>N | No |
ClinGen Ensembl |
|
rs1440897750 CA385551989 |
416 | C>S | No |
ClinGen gnomAD |
|
CA385552032 rs1373684608 |
418 | G>* | No |
ClinGen gnomAD |
|
rs1471059559 CA385552135 |
421 | G>E | No |
ClinGen TOPMed gnomAD |
|
rs370412283 CA6654521 |
421 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385552190 rs1167204700 |
423 | L>I | No |
ClinGen TOPMed gnomAD |
|
CA6654523 rs746331043 |
423 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6654525 rs565885022 |
424 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6654524 rs565885022 |
424 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA385552269 rs1315168319 |
425 | G>S | No |
ClinGen gnomAD |
|
rs761212971 CA385552294 |
426 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1395062477 CA385552282 |
426 | D>N | No |
ClinGen gnomAD |
|
rs749400140 CA6654527 |
427 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1432852769 CA385552325 |
428 | C>R | No |
ClinGen gnomAD |
|
CA6654529 rs762829220 |
429 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385552353 rs762829220 |
429 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6654530 rs766237649 |
429 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6654531 rs751370716 |
431 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759599421 CA6654533 |
432 | L>V | No |
ClinGen ExAC gnomAD |
|
CA385552531 rs1269216994 |
435 | R>I | No |
ClinGen TOPMed |
|
CA385552536 rs1208448297 |
436 | G>R | No |
ClinGen TOPMed |
|
rs1262541164 CA385552548 |
437 | P>S | No |
ClinGen gnomAD |
|
CA385552579 rs1187229812 |
439 | G>D | No |
ClinGen gnomAD |
|
rs1327378426 CA385552620 |
442 | Q>R | No |
ClinGen TOPMed |
|
RCV001261750 rs778066908 CA6654537 |
443 | R>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA237811488 rs1030933223 |
443 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs1030933223 CA385552637 |
443 | R>L | No |
ClinGen TOPMed gnomAD |
|
CA6654538 rs778066908 |
443 | R>S | No |
ClinGen ExAC gnomAD |
|
CA385552654 rs1386501253 |
444 | Y>* | No |
ClinGen TOPMed gnomAD |
|
CA6654540 rs372798341 |
444 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1465255981 CA385552640 |
444 | Y>H | No |
ClinGen gnomAD |
|
rs1345808773 CA385552662 |
445 | V>A | No |
ClinGen TOPMed gnomAD |
|
rs772623460 CA6654542 |
447 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs780420723 CA6654543 |
447 | Q>L | No |
ClinGen ExAC gnomAD |
|
rs747697380 CA6654544 |
449 | A>P | No |
ClinGen ExAC gnomAD |
|
CA237811493 rs1001249025 |
450 | D>E | No |
ClinGen TOPMed |
|
rs1366246152 CA385552876 |
453 | I>V | No |
ClinGen TOPMed |
|
rs370713793 CA6654546 |
454 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
rs1232845652 CA385552914 |
454 | S>T | No |
ClinGen gnomAD |
|
rs760735071 CA237811496 |
455 | Q>R | No |
ClinGen Ensembl |
|
CA385553006 rs1331332546 |
457 | W>* | No |
ClinGen gnomAD |
|
CA6654547 rs762737367 |
458 | I>F | No |
ClinGen ExAC gnomAD |
|
CA385553058 rs770686201 |
458 | I>M | No |
ClinGen ExAC gnomAD |
|
rs189229272 CA6654549 |
459 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA385553151 rs1594962609 |
460 | H>P | No |
ClinGen Ensembl |
|
CA6654550 rs759403266 |
460 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs201365302 CA6654552 |
462 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6654553 rs760827052 |
467 | S>N | No |
ClinGen ExAC gnomAD |
|
rs753921549 CA6654555 |
469 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6654554 rs764036012 |
469 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs150749682 CA6654557 |
473 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1308879969 CA385553524 |
474 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA385553771 rs1484019777 |
476 | Q>R | No |
ClinGen gnomAD |
|
CA385553852 rs1223883211 |
478 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs755656909 CA6654581 |
479 | I>T | No |
ClinGen ExAC gnomAD |
|
rs1429074041 CA385554009 |
481 | Y>* | No |
ClinGen gnomAD |
|
CA237811658 rs1050942155 |
483 | R>I | No |
ClinGen Ensembl |
|
CA385554105 rs766056217 |
484 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6654583 rs766056217 |
484 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6654582 rs751932441 |
484 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1594962930 CA385554164 |
486 | S>G | No |
ClinGen Ensembl |
|
CA6654584 rs781721813 |
489 | N>K | No |
ClinGen ExAC gnomAD |
|
CA385554268 rs1416045502 |
489 | N>S | No |
ClinGen TOPMed |
|
CA6654585 rs748815135 |
491 | L>P | No |
ClinGen ExAC gnomAD |
|
rs1293037090 CA385554381 |
492 | G>E | No |
ClinGen gnomAD |
|
rs116051216 CA385554433 |
493 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs116051216 CA6654587 COSM171369 |
493 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs756773745 CA6654586 |
493 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs371753918 CA6654589 |
494 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs79529064 CA6654590 |
496 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs375345701 CA237811690 |
497 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6654591 rs375345701 |
497 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM1476790 COSM431599 CA385554577 rs1228199341 |
498 | G>A | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs949857766 CA385554583 |
499 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs949857766 CA237811691 |
499 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs369392393 CA6654593 |
501 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6654594 rs115485566 |
501 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs536365007 CA6654595 |
504 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA385554806 rs1190449783 |
505 | I>M | No |
ClinGen gnomAD |
|
rs773245828 CA6654596 |
506 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA6654598 rs766612522 |
506 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1564374 CA237811714 |
506 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA385554818 rs1564374 |
506 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1564374 VAR_039404 CA6654597 |
506 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6654599 rs150264977 |
510 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1027565197 CA237811716 |
511 | A>T | No |
ClinGen TOPMed |
|
rs759881337 CA6654602 |
511 | A>V | No |
ClinGen ExAC gnomAD |
|
rs768155733 CA6654603 |
513 | G>C | No |
ClinGen ExAC gnomAD |
|
CA6654604 rs768155733 |
513 | G>S | No |
ClinGen ExAC gnomAD |
|
rs115150056 CA6654607 |
515 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs749927530 CA6654609 |
516 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385555175 rs1370132779 |
518 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA385555182 rs1283058037 |
518 | P>H | No |
ClinGen TOPMed |
|
CA385555188 rs1283058037 |
518 | P>R | No |
ClinGen TOPMed |
|
CA385555176 rs1370132779 |
518 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs758040973 CA6654610 |
520 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779751627 CA6654611 |
520 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1323007014 CA385555262 |
521 | G>V | No |
ClinGen TOPMed |
|
rs199891478 CA6654612 |
522 | S>C | No |
ClinGen ExAC gnomAD |
|
rs199891478 CA237811750 |
522 | S>F | No |
ClinGen ExAC gnomAD |
|
rs1388200939 CA385555307 |
523 | L>F | No |
ClinGen TOPMed |
|
rs759557573 CA6654613 |
524 | P>H | No |
ClinGen ExAC gnomAD |
|
CA6654614 rs781129004 |
525 | S>C | No |
ClinGen ExAC gnomAD |
|
rs1157287337 CA385555440 |
528 | L>R | No |
ClinGen TOPMed |
|
CA385555482 rs1476879481 |
530 | P>L | No |
ClinGen gnomAD |
|
CA385555495 rs1565728867 |
531 | K>E | No |
ClinGen Ensembl |
|
CA385555599 rs1440230400 |
534 | V>A | No |
ClinGen Ensembl |
|
rs748125313 CA6654618 |
535 | A>D | No |
ClinGen ExAC gnomAD |
|
rs1161510073 CA385555686 |
540 | P>T | No |
ClinGen gnomAD |
|
rs1565728893 CA385555749 |
543 | K>E | No |
ClinGen Ensembl |
|
CA6654620 rs773340260 |
544 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385557096 rs1354209303 |
546 | L>R | No |
ClinGen gnomAD |
|
rs749343142 CA6654639 |
547 | G>D | No |
ClinGen ExAC gnomAD |
|
CA385557137 rs1180761727 |
548 | D>N | No |
ClinGen TOPMed |
|
CA6654641 rs774472264 |
550 | P>R | No |
ClinGen ExAC gnomAD |
|
rs1207581636 CA385557208 |
550 | P>S | No |
ClinGen gnomAD |
|
rs1207581636 CA385557204 |
550 | P>T | No |
ClinGen gnomAD |
|
CA385557232 rs1289593909 |
551 | Q>L | No |
ClinGen gnomAD |
|
CA6654644 rs776051869 |
552 | A>S | No |
ClinGen ExAC gnomAD |
|
CA385557258 rs370774821 |
553 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA6654646 rs370774821 |
553 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA385557279 rs1594963694 |
555 | D>A | No |
ClinGen Ensembl |
|
rs1163143985 CA385557303 |
557 | P>A | No |
ClinGen gnomAD |
|
rs981198557 CA237811909 |
558 | P>L | No |
ClinGen Ensembl |
|
rs1206887266 CA385557313 |
558 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA6654647 rs777137013 |
560 | S>Y | No |
ClinGen ExAC gnomAD |
|
rs751012060 CA6654650 |
562 | T>N | No |
ClinGen ExAC |
|
CA6654649 rs765873004 |
562 | T>P | No |
ClinGen ExAC |
|
CA385557390 rs1167084712 |
563 | P>S | No |
ClinGen gnomAD |
|
rs752496393 CA6654654 |
564 | K>E | No |
ClinGen ExAC gnomAD |
|
CA6654655 rs755847425 |
565 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1338154582 CA385557458 |
567 | P>H | No |
ClinGen TOPMed gnomAD |
|
rs1594963788 CA385557466 |
568 | C>G | No |
ClinGen Ensembl |
|
rs757115464 CA6654660 |
569 | Q>K | No |
ClinGen ExAC |
|
rs1031346385 CA237811966 |
570 | A>G | No |
ClinGen TOPMed gnomAD |
|
rs779094951 CA6654661 |
570 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA385557508 rs1031346385 |
570 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs988243738 CA237811977 |
571 | R>I | No |
ClinGen TOPMed gnomAD |
|
rs200996964 CA6654664 |
572 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6654665 rs747388856 |
572 | L>H | No |
ClinGen ExAC gnomAD |
|
rs1187477677 CA385557563 |
574 | K>E | No |
ClinGen TOPMed gnomAD |
|
rs777034041 CA6654667 |
574 | K>N | No |
ClinGen ExAC gnomAD |
|
rs1389917371 CA385557603 |
576 | D>E | No |
ClinGen gnomAD |
|
rs1187106449 CA385557596 |
576 | D>V | No |
ClinGen gnomAD |
|
COSM1476791 rs915505248 CA237811984 COSM431600 |
577 | E>K | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs1458507021 CA385557681 |
581 | L>Q | No |
ClinGen TOPMed |
No associated diseases with Q86VW2
Functions
Description | ||
---|---|---|
EC Number | ||
Subcellular Localization |
|
|
PANTHER Family | PTHR22826 | RHO GUANINE EXCHANGE FACTOR-RELATED |
PANTHER Subfamily | PTHR22826:SF117 | PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING FAMILY G MEMBER 4B-RELATED |
PANTHER Protein Class |
guanyl-nucleotide exchange factor
G-protein modulator |
|
PANTHER Pathway Category | No pathway information available |
6 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
extrinsic component of membrane | The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
myofibril | The contractile element of skeletal and cardiac muscle; a long, highly organized bundle of actin, myosin, and other proteins that contracts by a sliding filament mechanism. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
sarcomere | The repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. |
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. |
3 GO annotations of biological process
Name | Definition |
---|---|
axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
regulation of Rho protein signal transduction | Any process that modulates the frequency, rate or extent of Rho protein signal transduction. |
regulation of small GTPase mediated signal transduction | Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. |
7 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q86YR7 | MCF2L2 | Probable guanine nucleotide exchange factor MCF2L2 | Homo sapiens (Human) | SS |
O75962 | TRIO | Triple functional domain protein | Homo sapiens (Human) | EV |
O60229 | KALRN | Kalirin | Homo sapiens (Human) | SS |
P10911 | MCF2 | Proto-oncogene DBL | Homo sapiens (Human) | EV |
O15068 | MCF2L | Guanine nucleotide exchange factor DBS | Homo sapiens (Human) | SS |
Q9CWR0 | Arhgef25 | Rho guanine nucleotide exchange factor 25 | Mus musculus (Mouse) | SS |
Q6P720 | Arhgef25 | Rho guanine nucleotide exchange factor 25 | Rattus norvegicus (Rat) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MRGGHKGGRC | ACPRVIRKVL | AKCGCCFARG | GRESYSIAGS | EGSISASAAS | GLAAPSGPSS |
70 | 80 | 90 | 100 | 110 | 120 |
GLSSGPCSPG | PPGPVSGLRR | WLDHSKHCLS | VETEADSGQA | GPYENWMLEP | ALATGEELPE |
130 | 140 | 150 | 160 | 170 | 180 |
LTLLTTLLEG | PGDKTQPPEE | ETLSQAPESE | EEQKKKALER | SMYVLSELVE | TEKMYVDDLG |
190 | 200 | 210 | 220 | 230 | 240 |
QIVEGYMATM | AAQGVPESLR | GRDRIVFGNI | QQIYEWHRDY | FLQELQRCLK | DPDWLAQLFI |
250 | 260 | 270 | 280 | 290 | 300 |
KHERRLHMYV | VYCQNKPKSE | HVVSEFGDSY | FEELRQQLGH | RLQLNDLLIK | PVQRIMKYQL |
310 | 320 | 330 | 340 | 350 | 360 |
LLKDFLKYYN | RAGMDTADLE | QAVEVMCFVP | KRCNDMMTLG | RLRGFEGKLT | AQGKLLGQDT |
370 | 380 | 390 | 400 | 410 | 420 |
FWVTEPEAGG | LLSSRGRERR | VFLFEQIIIF | SEALGGGVRG | GTQPGYVYKN | SIKVSCLGLE |
430 | 440 | 450 | 460 | 470 | 480 |
GNLQGDPCRF | ALTSRGPEGG | IQRYVLQAAD | PAISQAWIKH | VAQILESQRD | FLNALQSPIE |
490 | 500 | 510 | 520 | 530 | 540 |
YQRRESQTNS | LGRPRGPGVG | SPGRIQLGDQ | AQGSTHTPIN | GSLPSLLLSP | KGEVARALLP |
550 | 560 | 570 | |||
LDKQALGDIP | QAPHDSPPVS | PTPKTPPCQA | RLAKLDEDEL |