Descriptions

The Vav family is a group of tyrosine phosphorylation-dependent guanine nucleotide exchange factors (GEFs) that activate members of the Rac and Rho families of guanosine triphosphatases (GTPases) downstream of protein tyrosine kinases. When the tyrosine residues within the acidic (Ac) region are non-phosphorylated, the CH domain and Ac region occlude the GTPase-binding site within DH domain. The interaction is stabilized by the interaction between the hydroxyl group of Tyr174 within Ac region and GTPase binding site as well as the interaction between CH domain and DH-PH domains. The Y174F mutant displays constitutive and phosphorylation-independent catalytic activity. In addition to the N-terminal autoinhibitory regions, the truncation of C-terminal SH3 domain also relives the autoinhibition. C-terminal SH3 domain interacts with DH-PH domains and the intramolecular interaction occludes the GTPase-binding site of DH domain.

Autoinhibitory domains (AIDs)

Target domain

198-376 (DH domain)

Relief mechanism

Partner binding, PTM

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

8 structures for P52735

Entry ID Method Resolution Chain Position Source
2DLZ NMR - A 663-767 PDB
2DM1 NMR - A 819-878 PDB
2LNW NMR - A 659-771 PDB
2LNX NMR - A 659-771 PDB
4ROJ X-ray 195 A A/B/C 667-782 PDB
7RNV X-ray 215 A A 665-774 PDB
7WFY X-ray 245 A C 659-771 PDB
AF-P52735-F1 Predicted AlphaFoldDB

685 variants for P52735

Variant ID(s) Position Change Description Diseaes Association Provenance
rs780603223
CA5316362
3 Q>R No ClinGen
ExAC
gnomAD
CA5316361
rs755617330
4 W>* No ClinGen
ExAC
gnomAD
rs1379988829
CA375437387
4 W>G No ClinGen
gnomAD
rs749929702
CA5316360
7 C>Y No ClinGen
ExAC
gnomAD
CA375437351
rs1204773538
9 R>C No ClinGen
gnomAD
rs1436731913
CA375437341
10 W>C No ClinGen
gnomAD
CA375437327
rs1212967741
12 I>M No ClinGen
gnomAD
rs780522786
CA5316359
12 I>V No ClinGen
ExAC
gnomAD
CA5316358
rs756938235
14 C>G No ClinGen
ExAC
gnomAD
rs751150439
CA5316357
15 K>E No ClinGen
ExAC
gnomAD
rs762723809
CA5316355
18 P>L No ClinGen
ExAC
gnomAD
CA375437292
rs763889584
18 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs763889584
CA5316356
18 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA5316354
rs375205296
19 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765191899
CA5316353
20 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1436628922
CA375437276
21 H>D No ClinGen
gnomAD
CA375437266
rs773370672
22 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA5316351
rs773370672
22 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA5316350
rs772210977
24 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA5316348
rs774697864
26 P>L No ClinGen
ExAC
gnomAD
rs762139216
CA5316349
26 P>S No ClinGen
ExAC
rs1177442941
CA375437237
27 S>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1469267301
CA375437233
28 A>S No ClinGen
gnomAD
rs769205991
CA5316347
29 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA375437225
rs769205991
29 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA375437229
rs1249027124
29 V>M No ClinGen
gnomAD
CA375437207
rs1433420969
32 D>G No ClinGen
TOPMed
CA5316343
rs746323400
32 D>N No ClinGen
ExAC
gnomAD
CA375437202
rs1177697543
33 L>V No ClinGen
TOPMed
TCGA novel 38 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375437159
rs1224572536
40 G>R No ClinGen
gnomAD
CA201023284
rs1005902006
41 V>F No ClinGen
TOPMed
rs751271227
CA5316340
44 C>G No ClinGen
ExAC
TOPMed
gnomAD
CA375437121
rs1416764705
46 L>V No ClinGen
gnomAD
rs1312810374
CA375437109
48 H>R No ClinGen
gnomAD
CA5316339
rs777399618
48 H>Y No ClinGen
ExAC
gnomAD
rs1347343718
CA375437097
50 L>I No ClinGen
TOPMed
gnomAD
CA375437096
rs1347343718
50 L>V No ClinGen
TOPMed
gnomAD
CA375437087
rs1160242481
51 S>C No ClinGen
TOPMed
gnomAD
rs1160242481
CA375437086
51 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA375437088
rs1160242481
51 S>Y No ClinGen
TOPMed
gnomAD
rs1362367447
CA375437080
52 P>L No ClinGen
gnomAD
rs754947202
CA5316335
55 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA375437057
rs1258422004
56 D>G No ClinGen
TOPMed
rs1486783663
CA375437051
57 L>F No ClinGen
gnomAD
CA375437053
rs1486783663
57 L>I No ClinGen
gnomAD
CA201023235
rs368115750
59 D>N No ClinGen
ESP
TOPMed
CA5316332
rs767762962
60 I>V No ClinGen
ExAC
gnomAD
rs774751146
CA5316330
62 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs764386956
CA5316329
64 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs146348137
CA201023175
65 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1288396300
CA375436956
69 F>L No ClinGen
TOPMed
CA375436950
rs1205114199
69 F>L No ClinGen
gnomAD
rs201449931
CA201016648
75 I>T No ClinGen
1000Genomes
rs1235547692
CA375436905
76 R>C No ClinGen
gnomAD
COSM1460893
COSM1460892
CA375436904
rs1330882032
76 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1344676875
CA375436876
80 K>N No ClinGen
TOPMed
CA5316299
rs778422054
83 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA201016626
rs541209983
84 D>N No ClinGen
gnomAD
CA5316296
rs561589068
86 F>L No ClinGen
1000Genomes
ExAC
gnomAD
CA375436835
rs1174175420
86 F>Y No ClinGen
gnomAD
rs756154202
CA5316295
91 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1421061147
CA375436789
92 E>D No ClinGen
gnomAD
CA375436760
rs1482106215
97 F>L No ClinGen
gnomAD
CA375436750
rs879500661
98 D>A No ClinGen
Ensembl
rs879500661
CA201016617
98 D>V No ClinGen
Ensembl
COSM1460890
CA375436732
COSM1460891
rs1158306898
101 D>N large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs765350604
CA5316290
102 V>M No ClinGen
ExAC
gnomAD
rs754226739
CA5316288
103 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA5316287
rs766660632
COSM1106526
COSM1598123
103 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5316286
rs761181020
104 D>G No ClinGen
ExAC
gnomAD
CA201008970
rs143480779
110 S>A No ClinGen
1000Genomes
rs1469565534
CA375436112
110 S>F No ClinGen
gnomAD
CA5316255
rs755033891
111 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM76983
CA5316254
rs199806132
111 A>V ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA375436105
rs1227993424
112 V>L No ClinGen
TOPMed
gnomAD
CA5316252
rs756519675
113 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA375436101
rs1443070807
113 S>T No ClinGen
TOPMed
rs1324443921
CA375436078
116 S>F No ClinGen
gnomAD
rs1388590237
CA375436063
119 S>G No ClinGen
gnomAD
TCGA novel 119 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757707681
CA5316249
119 S>N No ClinGen
ExAC
gnomAD
rs1390062805
CA375436057
120 I>V No ClinGen
gnomAD
rs763756887
CA5316247
121 A>S No ClinGen
ExAC
gnomAD
rs763756887
CA5316248
121 A>T No ClinGen
ExAC
gnomAD
COSM1582793
COSM1582794
rs564658959
CA5316246
121 A>V stomach [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 122 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA201008948
rs973702754
122 Q>R No ClinGen
Ensembl
TCGA novel 123 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs552496774
CA5316244
123 N>I No ClinGen
1000Genomes
ExAC
gnomAD
CA5316243
rs759182638
125 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs776325440
CA5316242
126 I>V No ClinGen
ExAC
gnomAD
TCGA novel 128 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1236806892
CA375435147
128 P>T No ClinGen
TOPMed
gnomAD
CA375435136
rs1207824569
129 F>C No ClinGen
gnomAD
COSM1701902
COSM1701903
CA5316211
rs1325408097
130 P>S skin [Cosmic] No ClinGen
cosmic curated
TOPMed
rs753191819
CA5316209
131 S>L No ClinGen
ExAC
gnomAD
CA375435128
rs1270255113
131 S>T No ClinGen
gnomAD
rs1204274924
CA375435122
132 E>Q No ClinGen
Ensembl
TCGA novel 136 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs374867136
CA5316205
139 D>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs540258929
CA5316206
139 D>N Variant assessed as Somatic; 4.665e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA5316203
rs750247928
141 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1588242556
CA375435049
142 Y>S No ClinGen
Ensembl
CA375435043
rs761751112
143 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5316200
rs774257474
143 R>H No ClinGen
ExAC
gnomAD
CA375435041
rs774257474
COSM48838
143 R>L lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs774257474
CA375435042
143 R>P No ClinGen
ExAC
gnomAD
rs761751112
CA5316201
143 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1466845014
CA375435037
144 S>N No ClinGen
TOPMed
CA375435012
rs1192829034
147 E>D No ClinGen
gnomAD
CA375434999
rs1413060227
150 D>N No ClinGen
TOPMed
gnomAD
CA200991081
rs973290261
151 E>K No ClinGen
TOPMed
gnomAD
CA375436633
rs1167880867
156 E>* No ClinGen
gnomAD
rs546183608
CA5316171
156 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs1282762869
CA375436632
156 E>G No ClinGen
TOPMed
TCGA novel 156 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5316170
rs769233434
157 D>G No ClinGen
ExAC
CA375436606
rs377547961
160 D>H No ClinGen
ESP
ExAC
gnomAD
CA5316168
rs377547961
160 D>N No ClinGen
ESP
ExAC
gnomAD
rs144953516
COSM1106524
COSM1598124
CA5316166
162 V>I endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA5316164
rs757095462
163 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs757095462
CA5316165
163 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs267602159
CA200991070
163 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs763759757
CA5316162
165 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 166 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752522017
CA5316160
168 G>E No ClinGen
ExAC
gnomAD
rs1199450170
CA375436545
169 D>G No ClinGen
TOPMed
TCGA novel 170 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5316157
rs773614765
170 D>N No ClinGen
ExAC
gnomAD
CA375436531
rs1229773234
171 I>N No ClinGen
TOPMed
gnomAD
rs762083852
CA5316155
173 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA375436512
rs1407871213
174 D>N No ClinGen
gnomAD
rs774782605
CA5316154
176 I>V No ClinGen
ExAC
gnomAD
CA375436483
rs1303256900
178 V>M No ClinGen
gnomAD
rs1360085814
CA375436469
180 V>M No ClinGen
Ensembl
CA200991041
rs947002482
184 M>V No ClinGen
TOPMed
rs1361068811
CA375436404
187 Y>H No ClinGen
TOPMed
CA5316112
CA200990138
rs765520477
188 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA375436394
rs1210124682
188 M>T No ClinGen
TOPMed
CA200990140
rs971509748
188 M>V No ClinGen
Ensembl
rs760052704
CA5316111
189 Q>P No ClinGen
ExAC
gnomAD
rs1232623564
CA375436372
190 K>E No ClinGen
TOPMed
gnomAD
rs1232623564
CA375436373
190 K>Q No ClinGen
TOPMed
gnomAD
CA5316081
rs775377110
191 M>I No ClinGen
ExAC
gnomAD
CA5316080
rs769651196
195 E>K No ClinGen
ExAC
gnomAD
CA375436315
rs1327297349
197 D>E No ClinGen
gnomAD
CA5316078
rs777730106
200 N>T No ClinGen
ExAC
gnomAD
CA375436287
rs1316516211
201 C>Y No ClinGen
Ensembl
rs1234687506
CA375436237
208 E>G No ClinGen
gnomAD
CA5316074
rs755389222
210 E>D No ClinGen
ExAC
gnomAD
CA5316075
rs779080016
210 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA375436201
rs1588206252
213 Y>* No ClinGen
Ensembl
rs754228976
CA5316073
214 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs756590609
CA5316071
215 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA5316070
rs750925866
215 R>H No ClinGen
ExAC
gnomAD
rs750925866
CA375436190
215 R>L No ClinGen
ExAC
gnomAD
CA375436186
rs1401551520
216 T>I No ClinGen
TOPMed
rs1279682174
CA375436166
219 D>G No ClinGen
gnomAD
rs774196526
CA200989632
220 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs573725166
CA5316068
220 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA375436149
rs1564368166
222 K>Q No ClinGen
Ensembl
CA375435992
rs1250209692
223 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1189441446
CA375435987
224 Y>H No ClinGen
gnomAD
CA5316041
rs770926917
225 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs375010179
CA200989024
225 M>V No ClinGen
ESP
TOPMed
gnomAD
rs1056608217
CA200989022
226 S>I No ClinGen
gnomAD
CA375435961
rs1291614851
227 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs760535339
CA5316040
227 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760535339
CA375435965
227 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs546008982
CA5316037
229 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5316036
rs780290287
229 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs546008982
CA5316038
229 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5316033
rs781370355
231 V>G No ClinGen
ExAC
gnomAD
CA5316035
rs746265076
231 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA5316034
rs746265076
231 V>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 232 L>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 232 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757844156
CA5316032
233 S>I No ClinGen
ExAC
gnomAD
COSM1624683
rs200521072
COSM1624682
CA5316031
234 P>L liver [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs200521072
CA200989010
234 P>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs368899494
CA375435926
235 A>E No ClinGen
ExAC
gnomAD
rs1301212214
CA375435927
235 A>T No ClinGen
gnomAD
CA5316029
rs368899494
235 A>V Variant assessed as Somatic; 4.672e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs759066470
CA5316026
236 D>A No ClinGen
ExAC
gnomAD
CA5316027
rs759066470
236 D>G No ClinGen
ExAC
gnomAD
rs766101488
CA5316024
237 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs377331945
CA5316023
238 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1268880253
CA375435905
239 A>P No ClinGen
gnomAD
rs1220883003
CA375435898
240 V>L No ClinGen
gnomAD
CA5315989
rs199616982
246 D>G No ClinGen
1000Genomes
ExAC
gnomAD
CA5315990
rs530224752
246 D>N No ClinGen
1000Genomes
ExAC
gnomAD
CA375435838
rs1258667667
247 L>M No ClinGen
gnomAD
CA375435808
rs1462613393
251 H>R No ClinGen
gnomAD
rs1210059973
CA375435801
252 H>R No ClinGen
TOPMed
gnomAD
rs767232783
CA5315986
252 H>Y No ClinGen
ExAC
gnomAD
rs1356296947
CA375435768
257 A>T No ClinGen
gnomAD
CA375435749
rs1342081307
259 D>E No ClinGen
gnomAD
CA375435756
rs1168963554
259 D>N No ClinGen
TOPMed
gnomAD
CA375435753
rs1236759493
259 D>V No ClinGen
gnomAD
rs757231721
CA375435748
260 V>L No ClinGen
ExAC
gnomAD
rs757231721
CA5315985
260 V>M No ClinGen
ExAC
gnomAD
TCGA novel 261 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5315984
rs751439753
261 S>T No ClinGen
ExAC
gnomAD
rs759504644
CA375435737
262 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA5315982
rs759504644
262 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA375435729
rs1319388006
263 M>T No ClinGen
TOPMed
rs1385733713
CA375435720
264 V>G No ClinGen
gnomAD
rs777044584
CA5315981
264 V>M No ClinGen
ExAC
gnomAD
CA375435719
rs1564365196
265 G>R No ClinGen
Ensembl
rs143919789
CA5315979
266 G>D No ClinGen
1000Genomes
ExAC
gnomAD
CA375435707
rs1165943219
267 S>G No ClinGen
gnomAD
CA5315977
rs147505589
268 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5315978
rs773720874
268 T>P No ClinGen
ExAC
gnomAD
TCGA novel 270 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375435673
rs1177409077
272 V>A No ClinGen
TOPMed
gnomAD
rs1177409077
CA375435672
272 V>G No ClinGen
TOPMed
gnomAD
rs1202807126
CA375435655
275 D>G No ClinGen
gnomAD
CA5315974
rs768260214
275 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA375435656
rs768260214
275 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs907198234
CA200988544
278 E>G No ClinGen
TOPMed
CA375435626
rs1453601686
279 R>G No ClinGen
TOPMed
CA5315972
rs779498711
279 R>M No ClinGen
ExAC
gnomAD
CA375435608
rs1204960790
280 L>I No ClinGen
gnomAD
rs1376631871
CA375435591
282 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5315938
rs752628002
283 Y>H No ClinGen
ExAC
gnomAD
rs1347264164
CA375435582
284 G>R No ClinGen
gnomAD
CA5315936
rs756227922
285 E>D No ClinGen
ExAC
gnomAD
CA375435561
rs1379248664
287 C>R No ClinGen
TOPMed
rs1290753677
CA375435559
287 C>Y No ClinGen
gnomAD
rs376443625
CA5315935
289 H>R No ClinGen
ESP
ExAC
gnomAD
rs1335528002
CA375435539
290 M>V No ClinGen
TOPMed
gnomAD
rs141016276
CA5315934
292 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1598126
COSM1106520
CA5315932
rs751902643
293 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs764471379
CA5315931
293 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA5315930
rs763501246
294 Q>* No ClinGen
ExAC
gnomAD
rs775944049
CA5315929
295 N>D No ClinGen
ExAC
gnomAD
CA5315928
rs769359624
296 T>A No ClinGen
ExAC
gnomAD
TCGA novel 296 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375435489
rs1469479782
297 L>P No ClinGen
gnomAD
CA375435482
rs1189308670
298 N>K No ClinGen
gnomAD
rs759032620
CA5315927
298 N>S No ClinGen
ExAC
gnomAD
rs1462841236
CA375435478
299 Q>* No ClinGen
gnomAD
CA375435474
rs1394793750
299 Q>H No ClinGen
gnomAD
CA5315926
rs776146802
300 L>F No ClinGen
ExAC
gnomAD
rs1291650134
CA375435465
301 L>Q No ClinGen
TOPMed
CA375435459
rs1321493519
302 A>D No ClinGen
gnomAD
CA375435457
rs1321493519
302 A>V No ClinGen
gnomAD
CA375435447
rs1350540931
304 R>Q No ClinGen
TOPMed
gnomAD
rs150680379
CA5315924
304 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375435423
rs1564357856
307 F>C No ClinGen
Ensembl
TCGA novel 311 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5315922
rs568453790
312 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5315886
rs754343989
313 E>K No ClinGen
ExAC
gnomAD
CA375435364
rs1441178732
314 C>G No ClinGen
TOPMed
TCGA novel 314 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765842927
CA5315885
315 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs34769896
CA200983250
316 L>M No ClinGen
Ensembl
CA375435350
rs1588187554
316 L>R No ClinGen
Ensembl
CA5315882
rs767286250
321 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA375435281
rs1346890694
326 Q>R No ClinGen
gnomAD
rs148077598
CA5315881
328 L>V No ClinGen
ESP
ExAC
TOPMed
CA5315880
rs143721504
330 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1428046965
CA375435255
331 V>I No ClinGen
TOPMed
gnomAD
rs768549731
CA5315879
332 P>A No ClinGen
ExAC
gnomAD
TCGA novel 334 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762839518
CA5315878
334 Q>R No ClinGen
ExAC
gnomAD
rs775492722
CA5315877
335 R>K No ClinGen
ExAC
gnomAD
rs770973334
CA5315876
336 V>L No ClinGen
ExAC
gnomAD
CA375435205
rs1261055802
338 K>N No ClinGen
gnomAD
rs1457518292
CA375435193
340 H>Y No ClinGen
TOPMed
rs1239641767
CA375435181
342 L>V No ClinGen
TOPMed
rs1305365070
CA375435164
344 K>M No ClinGen
gnomAD
rs752565749
CA5315840
345 E>D No ClinGen
ExAC
gnomAD
CA5315841
rs372614789
345 E>K No ClinGen
ESP
ExAC
gnomAD
CA5315839
rs764890175
346 L>F No ClinGen
ExAC
gnomAD
CA5315838
rs759515348
347 L>V No ClinGen
ExAC
gnomAD
CA375434964
rs1260003591
348 S>N No ClinGen
gnomAD
CA375434963
rs1260003591
348 S>T No ClinGen
gnomAD
rs61761612
CA5315837
349 H>L No ClinGen
ExAC
TOPMed
gnomAD
CA5315836
rs767645931
350 S>Y No ClinGen
ExAC
gnomAD
CA5315835
rs367789551
351 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375434932
rs749425031
353 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA5315832
rs749425031
353 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5315833
rs200570910
353 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA375434910
rs1367813154
357 Q>E No ClinGen
gnomAD
rs201146753
CA5315828
358 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5315827
rs757780660
359 L>P No ClinGen
ExAC
gnomAD
CA200982865
rs1004482095
367 Q>R No ClinGen
TOPMed
gnomAD
rs754562539
CA5315804
370 A>V No ClinGen
ExAC
gnomAD
rs766115923
CA5315802
371 M>I No ClinGen
ExAC
gnomAD
CA375434800
rs1176170688
371 M>L No ClinGen
TOPMed
rs1386577376
CA375434791
372 Y>H No ClinGen
TOPMed
rs756096553
CA5315801
373 I>V No ClinGen
ExAC
gnomAD
rs752765700
COSM3413431
COSM3413432
CA5315797
378 R>Q central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
CA5315798
rs142018797
378 R>W Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA375434734
rs1234422985
380 K>R No ClinGen
gnomAD
rs765560617
CA5315796
381 E>Q No ClinGen
ExAC
gnomAD
rs759792457
CA5315795
382 T>A No ClinGen
ExAC
gnomAD
rs761281648
CA5315792
391 S>N No ClinGen
ExAC
gnomAD
rs369424247
CA200981611
392 S>C No ClinGen
ESP
TOPMed
gnomAD
rs369424247
CA375434646
392 S>F No ClinGen
ESP
TOPMed
gnomAD
CA5315789
rs747621286
393 I>M No ClinGen
ExAC
gnomAD
CA5315790
rs138063876
393 I>V No ClinGen
ESP
ExAC
gnomAD
TCGA novel 395 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778358319
CA5315788
396 L>S No ClinGen
ExAC
gnomAD
rs145444804
CA5315761
398 V>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1244385929
CA375434400
398 V>M No ClinGen
gnomAD
CA375434383
rs1488229094
400 L>R No ClinGen
gnomAD
CA5315760
rs755102034
401 E>G No ClinGen
ExAC
gnomAD
rs754168996
CA5315759
402 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA375434371
rs1359711568
402 E>V No ClinGen
gnomAD
CA200980826
rs267602158
410 G>R No ClinGen
Ensembl
rs1226172352
CA375434304
412 L>V No ClinGen
gnomAD
CA5315757
rs756289741
415 R>Q No ClinGen
ExAC
gnomAD
rs1363424884
COSM1701901
CA375434285
COSM1701900
415 R>W skin [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA5315755
rs767906649
416 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA375434274
rs1366492152
417 I>T No ClinGen
gnomAD
rs375096471
CA5315754
417 I>V No ClinGen
ESP
ExAC
gnomAD
rs774837732
CA5315753
419 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1588175826
CA375434257
420 H>N No ClinGen
Ensembl
CA5315752
rs763654070
421 T>I No ClinGen
ExAC
gnomAD
rs574299407
CA5315750
423 Q>E No ClinGen
1000Genomes
ExAC
gnomAD
CA5315749
rs745475435
424 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs776337749
CA5315747
425 R>M No ClinGen
ExAC
TOPMed
gnomAD
CA200980478
rs935832395
426 Y>* No ClinGen
Ensembl
CA200980476
rs768507686
428 F>L No ClinGen
Ensembl
CA5315710
rs760360468
433 V>A No ClinGen
ExAC
gnomAD
rs771963894
CA375434013
435 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA375434026
rs1267642044
435 I>V No ClinGen
TOPMed
CA5315706
rs761914102
436 V>I No ClinGen
ExAC
gnomAD
CA5315709
rs762688041
437 C>* No ClinGen
ExAC
rs768420549
CA5315704
439 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA5315703
rs138761889
439 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs768420549
CA5315705
439 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs781095040
CA5315702
440 K>R No ClinGen
ExAC
gnomAD
CA5315700
rs747209081
443 S>G No ClinGen
ExAC
gnomAD
rs56296048
CA375433890
444 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758756932
CA5315698
445 E>D No ClinGen
ExAC
gnomAD
rs1402193576
CA375433870
446 L>F No ClinGen
gnomAD
CA375433821
rs1301583073
449 I>N No ClinGen
TOPMed
gnomAD
rs949387662
CA200980456
CA375433788
451 E>D No ClinGen
TOPMed
gnomAD
CA5315695
rs755369467
451 E>K No ClinGen
ExAC
gnomAD
rs1486130935
CA375433671
CA375433670
459 D>E No ClinGen
TOPMed
gnomAD
CA5315689
rs761718058
459 D>N No ClinGen
ExAC
gnomAD
rs773952259
CA5315688
460 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA375433634
rs1228990434
462 M>L No ClinGen
TOPMed
rs1287802834
CA375433612
463 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs762753188
CA5315686
464 N>S No ClinGen
ExAC
gnomAD
TCGA novel 465 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375433578
rs1172044202
466 D>V No ClinGen
gnomAD
rs201764323
CA5315684
467 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375433575
rs150924742
467 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5315685
rs150924742
467 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777957288
CA5315682
468 K>Q No ClinGen
ExAC
gnomAD
rs1458249565
CA375433102
471 H>Y No ClinGen
TOPMed
gnomAD
CA200980170
rs935532382
472 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5315604
rs764213656
478 G>A No ClinGen
ExAC
gnomAD
CA375432845
rs764213656
478 G>D No ClinGen
ExAC
gnomAD
rs186434110
COSM1155095
COSM1106516
CA5315605
478 G>S Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1320534584
CA375432823
480 Y>H No ClinGen
gnomAD
CA375432788
rs1350620440
482 I>S No ClinGen
gnomAD
rs1340851644
CA375432777
483 H>R No ClinGen
TOPMed
rs1403666390
CA375432762
484 L>P No ClinGen
gnomAD
rs767478307
CA200978320
486 G>E No ClinGen
Ensembl
rs776987604
CA5315599
486 G>R No ClinGen
ExAC
gnomAD
rs771536985
CA5315594
499 M>T No ClinGen
ExAC
gnomAD
CA5315591
rs768234718
504 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA5315593
rs774008253
504 M>K No ClinGen
ExAC
TOPMed
gnomAD
CA375432473
rs1218813414
504 M>L No ClinGen
gnomAD
rs774008253
CA5315592
504 M>R No ClinGen
ExAC
TOPMed
gnomAD
CA5315590
rs140877645
505 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs779854047
CA5315589
511 M>T No ClinGen
ExAC
gnomAD
CA375432242
rs1588169455
512 S>A No ClinGen
Ensembl
rs144398774
CA5315564
515 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5315562
rs150054284
520 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375432126
rs1254038497
520 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA200977986
rs562583711
521 A>T No ClinGen
1000Genomes
rs1588169418
CA375432110
521 A>V No ClinGen
Ensembl
CA375432085
rs1364781694
523 H>D No ClinGen
gnomAD
CA375432037
rs1392794706
526 F>V No ClinGen
Ensembl
CA5315559
rs184909763
528 M>I No ClinGen
1000Genomes
ExAC
gnomAD
rs750245667
CA200977983
530 T>M No ClinGen
TOPMed
gnomAD
CA375431967
rs750245667
530 T>R No ClinGen
TOPMed
gnomAD
rs191239028
CA5315556
532 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5315557
rs773904390
532 D>N No ClinGen
ExAC
gnomAD
rs1378997392
CA375431917
534 T>A No ClinGen
TOPMed
gnomAD
CA5315555
rs372445285
535 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375431895
rs1360828074
536 N>D No ClinGen
gnomAD
rs1157646248
CA375431876
537 C>Y No ClinGen
gnomAD
rs1451130243
CA375431850
539 A>T No ClinGen
gnomAD
CA200977977
rs986093528
541 K>E No ClinGen
Ensembl
TCGA novel 544 L>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759464787
CA5315551
544 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA375431762
rs1301910148
544 L>R No ClinGen
TOPMed
CA375431345
rs1332516679
546 G>A No ClinGen
TOPMed
gnomAD
rs1332516679
CA375431346
546 G>D No ClinGen
TOPMed
gnomAD
CA200977786
rs969726282
547 T>I No ClinGen
gnomAD
rs1385769740
CA375431327
549 Y>C No ClinGen
gnomAD
CA375431312
rs1391688105
551 G>A No ClinGen
gnomAD
rs202226819
CA5315520
553 M>T No ClinGen
1000Genomes
ExAC
TCGA novel 553 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757608619
CA5315521
553 M>V No ClinGen
ExAC
gnomAD
rs1471767990
CA375431276
556 K>R No ClinGen
TOPMed
rs1167345356
CA375431262
558 G>C No ClinGen
TOPMed
rs1024006695
CA200977780
558 G>D No ClinGen
TOPMed
gnomAD
CA375431258
rs758789048
559 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA5315518
rs758789048
559 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA5315515
rs754695036
560 G>A No ClinGen
ExAC
gnomAD
CA375431251
rs754695036
560 G>E No ClinGen
ExAC
gnomAD
CA5315516
rs376689003
560 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5315513
rs766333869
561 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs766333869
CA5315514
561 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1251236031
CA375431226
564 E>G No ClinGen
gnomAD
CA375431198
rs1348306895
568 V>A No ClinGen
TOPMed
gnomAD
rs1348306895
CA375431197
568 V>G No ClinGen
TOPMed
gnomAD
rs760558503
CA200977773
568 V>L No ClinGen
ExAC
gnomAD
CA5315512
rs760558503
568 V>M No ClinGen
ExAC
gnomAD
rs773103360
CA5315511
569 I>L No ClinGen
ExAC
gnomAD
CA375431187
rs1232395967
570 P>L No ClinGen
TOPMed
CA200977770
rs374011637
570 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5315510
rs374011637
570 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1256918027
CA375431165
573 K>N No ClinGen
gnomAD
rs1232105362
CA375431155
575 T>A No ClinGen
gnomAD
rs1352670554
CA375430541
577 P>L No ClinGen
Ensembl
rs1412693042
CA375430546
577 P>S No ClinGen
gnomAD
CA375430533
rs1310708370
578 A>E No ClinGen
TOPMed
gnomAD
CA5315481
rs776654627
580 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1414688677
CA375429963
581 D>N No ClinGen
TOPMed
gnomAD
rs776157987
CA375429938
582 A>P No ClinGen
ExAC
gnomAD
rs776157987
CA5315437
582 A>T No ClinGen
ExAC
gnomAD
rs745404223
COSM3395652
CA5315435
COSM3395651
584 G>R pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA5315434
rs146078250
585 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs548048956
CA5315433
585 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1348939836
CA375429815
588 G>R No ClinGen
TOPMed
gnomAD
COSM1727178
COSM1727179
rs749245786
CA5315408
590 K>N liver [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs781187663
CA5315407
591 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs757372611
CA5315406
592 V>M No ClinGen
ExAC
gnomAD
rs1351582845
CA375429545
593 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA375429539
rs602990
594 M>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA375429537
rs1474814044
594 M>T No ClinGen
gnomAD
VAR_045690
rs602990
CA5315404
594 M>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA375429526
rs1415417405
595 Q>* No ClinGen
gnomAD
CA375429484
rs1588162619
597 Y>S No ClinGen
Ensembl
rs948700593
CA200976015
598 H>R No ClinGen
Ensembl
CA375429446
rs1478965365
599 G>D No ClinGen
gnomAD
CA375429429
rs1588162602
600 N>T No ClinGen
Ensembl
rs1262681533
CA375429413
601 P>S No ClinGen
gnomAD
CA5315403
rs758647095
602 A>V No ClinGen
ExAC
gnomAD
CA200976012
rs917121261
603 P>A No ClinGen
Ensembl
CA5315402
rs753165273
603 P>L No ClinGen
ExAC
gnomAD
CA5315401
rs765602760
604 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs148238092
CA5315398
605 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5315399
COSM1232203
rs148238092
COSM1232202
605 G>W large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA375429309
rs1484927694
608 V>A No ClinGen
TOPMed
CA5315397
rs760181556
608 V>L No ClinGen
ExAC
gnomAD
rs772668402
CA5315396
610 T>I No ClinGen
ExAC
gnomAD
rs771733049
CA5315395
611 F>L No ClinGen
ExAC
gnomAD
CA5315394
rs747775389
612 Q>L No ClinGen
ExAC
rs774081477
CA5315393
613 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs569003098
CA5315391
614 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA200975983
rs978842166
615 D>N No ClinGen
TOPMed
gnomAD
rs747112648
CA5315388
616 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA375429162
rs1554770506
617 L>F No ClinGen
Ensembl
CA5315385
rs752960944
621 R>M No ClinGen
ExAC
TOPMed
gnomAD
rs755378842
CA5315383
623 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1194332682
CA375429054
624 P>S No ClinGen
gnomAD
rs766939641
CA5315381
627 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1200959100
CA375429018
629 W>R No ClinGen
gnomAD
CA375427983
rs1485961160
631 G>V No ClinGen
TOPMed
rs749439328
CA5315348
632 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5315347
rs780462649
632 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs756485000
CA5315346
633 L>V Variant assessed as Somatic; 9.266e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs137947314
CA5315345
635 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1209739418
CA375427868
641 Y>F No ClinGen
gnomAD
CA375427853
rs1484446568
642 F>L No ClinGen
TOPMed
gnomAD
rs757658966
CA5315343
643 P>L No ClinGen
ExAC
gnomAD
rs752274958
CA5315339
651 P>S No ClinGen
ExAC
gnomAD
CA375427672
rs1175926019
652 V>G No ClinGen
TOPMed
CA5315338
rs764920694
652 V>M No ClinGen
ExAC
gnomAD
rs745423288
CA200975353
653 D>E No ClinGen
TOPMed
gnomAD
CA375427643
rs1414405918
653 D>G No ClinGen
gnomAD
rs776525103
CA5315336
654 G>R No ClinGen
ExAC
CA375427612
rs1320441021
654 G>V No ClinGen
gnomAD
rs766440261
CA5315335
655 R>G No ClinGen
ExAC
gnomAD
CA375427603
rs1564335031
655 R>K No ClinGen
Ensembl
rs150295787 656 P>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs201540300
CA5315309
656 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375427123
rs1372412547
657 P>A No ClinGen
gnomAD
CA5315306
rs190108958
660 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5315305
rs190108958
660 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs770053214
CA5315307
660 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA5315304
rs145700399
661 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA200974609
rs955136607
662 P>L No ClinGen
TOPMed
rs778142385
CA5315302
663 S>C No ClinGen
ExAC
gnomAD
CA5315300
rs147799977
664 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5315301
rs772588253
664 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA5315298
rs144269361
666 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA375426994
rs1454312993
666 I>V No ClinGen
gnomAD
rs779956188
CA5315296
667 D>G No ClinGen
ExAC
gnomAD
CA5315297
rs142558070
667 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5315295
rs755866286
669 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA375426972
rs1348655623
669 T>S No ClinGen
TOPMed
rs1272714390
CA375426969
670 A>P No ClinGen
TOPMed
gnomAD
CA375426958
rs1348710701
671 Y>C No ClinGen
TOPMed
gnomAD
rs752817573
CA5315291
672 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1217979822
CA375426953
672 P>S No ClinGen
gnomAD
CA200974546
rs1046012161
673 W>S No ClinGen
TOPMed
rs769246708
CA375426443
678 M>K No ClinGen
ExAC
gnomAD
CA5315264
rs769246708
678 M>T No ClinGen
ExAC
gnomAD
rs748829750
CA5315263
683 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs769373042
CA5315261
685 N>S No ClinGen
ExAC
gnomAD
rs769373042
CA375426196
685 N>T No ClinGen
ExAC
gnomAD
rs1310178015
CA375426172
686 L>V No ClinGen
gnomAD
CA5315259
rs780909333
689 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA375426104
rs1588157572
689 S>P No ClinGen
Ensembl
rs7875953
CA5315258
690 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142993722
CA200973890
691 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142993722
CA5315256
691 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5315255
rs758279112
691 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs766448838
CA5315253
693 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA375425951
rs937643733
694 T>P No ClinGen
Ensembl
rs937643733
CA200973840
694 T>S No ClinGen
Ensembl
rs1471922738
CA375425802
699 E>V No ClinGen
gnomAD
COSM1460879
rs1162980032
COSM1460878
CA375425776
700 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
COSM1598129
CA375425786
COSM1106512
rs1564332755
700 R>W Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA200973828
rs927504022
701 P>L No ClinGen
Ensembl
CA5315251
rs750643570
702 A>S No ClinGen
ExAC
gnomAD
rs762272210
CA5315249
703 E>K No ClinGen
ExAC
gnomAD
rs764747022
CA5315247
704 A>T No ClinGen
ExAC
gnomAD
rs369246487
CA5315245
706 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5315244
rs769335699
706 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA375425566
rs1266345573
709 I>M No ClinGen
Ensembl
rs1029016039
CA200973796
709 I>V No ClinGen
TOPMed
CA5315243
rs745312826
710 S>N No ClinGen
ExAC
gnomAD
CA375425535
rs1307709067
711 I>L No ClinGen
gnomAD
rs1294299323
CA375425507
712 K>R No ClinGen
gnomAD
CA5315200
rs751820840
714 N>H No ClinGen
ExAC
gnomAD
rs758798561
CA5315198
714 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs758798561
CA5315199
714 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA200970939
rs1012487581
720 I>V No ClinGen
TOPMed
rs759935502
CA5315195
723 V>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 723 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765866512
CA5315193
725 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs760375847
CA5315191
731 I>N No ClinGen
ExAC
gnomAD
rs1411696176
CA375424038
732 T>I No ClinGen
gnomAD
rs902666283
CA200970911
738 D>N No ClinGen
TOPMed
rs140004145
CA200970909
739 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140004145
CA5315188
739 S>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1186280431
CA375423905
739 S>I No ClinGen
gnomAD
CA375423902
rs1199188591
739 S>R No ClinGen
TOPMed
rs867032627
CA200970901
740 L>F No ClinGen
Ensembl
rs749975481
CA375423525
743 L>F No ClinGen
ExAC
gnomAD
CA5315151
rs766933645
744 V>G No ClinGen
ExAC
rs56300187
CA200969228
746 Y>* No ClinGen
Ensembl
TCGA novel 746 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1588152493
CA375423492
746 Y>D No ClinGen
Ensembl
CA375423438
rs1168032692
750 H>D No ClinGen
gnomAD
CA5315148
rs763737747
750 H>L No ClinGen
ExAC
gnomAD
rs764218046
CA200969201
751 S>L No ClinGen
Ensembl
rs1468809405
CA375423405
755 S>G No ClinGen
gnomAD
CA5315146
rs775372990
755 S>N No ClinGen
ExAC
gnomAD
rs1283428476
CA375423368
760 D>Y No ClinGen
gnomAD
CA375423359
rs1275345661
761 T>S No ClinGen
gnomAD
CA200969106
rs773411427
762 T>I No ClinGen
ExAC
gnomAD
rs773411427
CA5315143
762 T>K No ClinGen
ExAC
gnomAD
rs1020408130
CA200969098
763 L>F No ClinGen
TOPMed
gnomAD
CA375423349
rs1295409239
763 L>P No ClinGen
gnomAD
rs772034314
CA5315142
764 K>R No ClinGen
ExAC
gnomAD
TCGA novel 764 K>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs972602439
CA200969097
765 Y>* No ClinGen
Ensembl
CA375423332
rs1274679832
766 P>A No ClinGen
gnomAD
CA375423320
rs1366276670
767 Y>* No ClinGen
gnomAD
TCGA novel 767 Y>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5315139
rs202215285
770 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5315140
rs774443032
770 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5315138
rs749677179
771 E>G No ClinGen
ExAC
gnomAD
rs1428639992
CA375423302
771 E>K No ClinGen
gnomAD
CA375423293
COSM1151240
rs1174972227
COSM753259
772 R>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA5315137
rs780374809
772 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs756680997
CA5315136
773 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs142833769
CA200969074
774 A>T No ClinGen
ESP
TOPMed
gnomAD
rs781681211
CA375423278
775 S>A No ClinGen
ExAC
TOPMed
gnomAD
CA375423279
rs781681211
775 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs781681211
CA5315134
775 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA5315132
rs751038492
776 R>G No ClinGen
ExAC
gnomAD
CA5315131
rs777588088
777 A>P No ClinGen
ExAC
gnomAD
CA375423260
rs1217927063
778 S>C No ClinGen
gnomAD
rs200274692
CA5315130
778 S>P No ClinGen
ExAC
gnomAD
TCGA novel 779 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765122995
CA375423250
780 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA5315126
rs767880414
780 R>Q No ClinGen
ExAC
gnomAD
rs765122995
CA5315127
780 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs866421862
CA200969024
781 S>C No ClinGen
Ensembl
CA375422257
rs1456299174
785 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1294246832
CA375422187
788 Y>C No ClinGen
TOPMed
gnomAD
COSM455561
CA375422158
rs1215778665
789 N>S Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA375422085
rs1332532896
792 F>V No ClinGen
TOPMed
CA5315099
rs531614938
792 F>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs777028727
CA5315098
793 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs370841001
CA5315095
794 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA375422020
rs1458657832
795 P>S No ClinGen
gnomAD
CA375421985
rs1328349315
797 G>C No ClinGen
TOPMed
CA5315092
rs377647835
798 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 801 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200411313
CA5315090
801 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 803 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA375421866
rs1210783594
804 G>A No ClinGen
gnomAD
rs749087475
CA5315088
804 G>S No ClinGen
ExAC
gnomAD
CA375421844
rs1206118288
806 S>T No ClinGen
gnomAD
CA5315083
rs372641201
807 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs183141718
CA5315085
807 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5315084
rs183141718
807 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372641201
CA200966411
807 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA375421836
rs1373077557
808 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs758502385
CA5315082
809 F>L No ClinGen
ExAC
gnomAD
rs1588151280
CA375421811
811 S>L No ClinGen
Ensembl
CA5315048
rs564689902
814 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5315046
rs746931943
815 P>S No ClinGen
ExAC
gnomAD
CA5315045
rs191274326
816 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs202055327
CA5315044
816 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs780349466
CA5315042
817 V>I No ClinGen
ExAC
TOPMed
gnomAD
COSM3774355
CA5315040
rs61751477
COSM3774356
818 I>M kidney [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs148033881
CA5315039
819 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs148033881
CA5315038
819 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 821 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs934946882
CA200965647
823 A>T No ClinGen
Ensembl
rs201135054
CA200965640
824 R>G No ClinGen
Ensembl
rs978997426
CA200965639
825 Y>C No ClinGen
Ensembl
CA5315034
rs774838611
828 A>S No ClinGen
ExAC
gnomAD
rs1415577020
CA375421583
829 A>T No ClinGen
TOPMed
CA5315032
rs146994870
830 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374240487
CA5315031
830 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA375421537
rs746743644
832 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs746743644
CA5315029
832 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs746362083
CA200965568
834 E>D No ClinGen
TOPMed
gnomAD
rs201638694
CA200965560
835 L>I No ClinGen
1000Genomes
COSM168874
CA5315027
rs771858287
836 S>L large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA200965538
rs371905656
837 L>M No ClinGen
ESP
rs138753594
CA5315023
838 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756471330
CA5315024
838 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs781497372
CA5315022
839 E>A No ClinGen
ExAC
TOPMed
rs1318958505
CA375421410
840 G>D No ClinGen
gnomAD
CA5315021
CA5315020
rs764709519
841 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA5315018
rs145738821
COSM1145262
COSM608167
842 V>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs145738821
CA5315017
842 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 843 V>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5315016
rs375495204
844 R>K No ClinGen
ExAC
gnomAD
rs1471533924
CA375421320
846 Y>C No ClinGen
gnomAD
rs1471533924
CA375421322
846 Y>S No ClinGen
gnomAD
CA375421300
rs1391413151
847 S>R No ClinGen
gnomAD
rs149037213
CA5315015
848 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1448786149
CA375421291
848 R>H No ClinGen
TOPMed
gnomAD
rs1448786149
CA375421287
848 R>L No ClinGen
TOPMed
gnomAD
rs765980821
CA5315014
849 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs9722384
CA375421275
849 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765980821
CA5315013
849 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA5315011
rs150483592
850 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs748032251
CA5315009
851 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1229876435
CA375421231
852 D>G No ClinGen
gnomAD
rs1299832987
CA375421239
852 D>Y No ClinGen
gnomAD
CA200965433
rs151297491
853 Q>* No ClinGen
ESP
TOPMed
gnomAD
CA200965430
rs781431537
853 Q>L No ClinGen
gnomAD
CA200965429
rs180805365
854 G>S No ClinGen
1000Genomes
CA375421171
rs1588150235
856 W>G No ClinGen
Ensembl
rs1350779241
CA375421139
858 G>C No ClinGen
gnomAD
CA5315004
rs757529218
859 E>K No ClinGen
ExAC
gnomAD
rs1057144078
CA200965413
860 T>I No ClinGen
gnomAD
rs201927799
CA5315002
862 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs765663291
CA5314999
863 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1192809186
CA375421052
863 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1192809186
CA375421057
863 R>Q No ClinGen
TOPMed
gnomAD
CA5315000
rs765663291
863 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1564321914
CA375419452
866 W>G No ClinGen
Ensembl
CA5314964
rs751377141
867 F>V No ClinGen
ExAC
gnomAD
rs762978617
CA5314962
868 P>S Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs143833447
CA5314960
870 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752528032
CA5314957
872 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA375419381
rs752528032
872 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs867276571
CA200961722
874 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1412357683
CA375419328
876 G>A No ClinGen
gnomAD
rs1356034282
CA375419335
876 G>R No ClinGen
TOPMed
rs748565136
CA5314956
877 I>N No ClinGen
ExAC
gnomAD
CA200961707
rs961760785
878 Q>R No ClinGen
TOPMed
rs1564321774
CA375419281
879 Q>G No ClinGen
Ensembl

No associated diseases with P52735

14 regional properties for P52735

Type Name Position InterPro Accession
domain Protein kinase domain 621 - 884 IPR000719
domain Ephrin receptor ligand binding domain 20 - 202 IPR001090
domain Serine-threonine/tyrosine-protein kinase, catalytic domain 622 - 880 IPR001245
conserved_site Tyrosine-protein kinase, receptor class V, conserved site 178 - 198 IPR001426-1
conserved_site Tyrosine-protein kinase, receptor class V, conserved site 241 - 261 IPR001426-2
domain Sterile alpha motif domain 910 - 977 IPR001660
domain Fibronectin type III 324 - 434 IPR003961-1
domain Fibronectin type III 435 - 530 IPR003961-2
active_site Tyrosine-protein kinase, active site 742 - 754 IPR008266
domain Tyrosine-protein kinase ephrin type A/B receptor-like 268 - 302 IPR011641
binding_site Protein kinase, ATP binding site 627 - 653 IPR017441
domain Tyrosine-protein kinase, catalytic domain 621 - 880 IPR020635
domain Ephrin receptor, transmembrane domain 544 - 617 IPR027936
domain Ephrin type-B receptor 2, ligand binding domain 19 - 196 IPR034238

Functions

Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 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.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

4 GO annotations of molecular function

Name Definition
epidermal growth factor receptor binding Binding to an epidermal growth factor receptor.
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.
metal ion binding Binding to a metal ion.
phosphotyrosine residue binding Binding to a phosphorylated tyrosine residue within a protein.

14 GO annotations of biological process

Name Definition
angiogenesis Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
cell migration The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues.
cellular response to xenobiotic stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organism exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
Fc-epsilon receptor signaling pathway The series of molecular signals initiated by the binding of the Fc portion of immunoglobulin E (IgE) to an Fc-epsilon receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. The Fc portion of an immunoglobulin is its C-terminal constant region.
Fc-gamma receptor signaling pathway involved in phagocytosis An Fc-gamma receptor signaling pathway that contributes to the endocytic engulfment of external particulate material by phagocytes.
lamellipodium assembly Formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell.
platelet activation A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug.
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B.
regulation of cell size Any process that modulates the size of a cell.
regulation of GTPase activity Any process that modulates the rate of GTP hydrolysis by a GTPase.
regulation of small GTPase mediated signal transduction Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.
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.
small GTPase-mediated signal transduction The series of molecular signals in which a small monomeric GTPase relays a signal.
vascular endothelial growth factor receptor signaling pathway The series of molecular signals initiated by a ligand binding to a vascular endothelial growth factor receptor (VEGFR) on the surface of the target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.

8 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9NHV9 Vav Protein vav Drosophila melanogaster (Fruit fly) SS
P15498 VAV1 Proto-oncogene vav Homo sapiens (Human) EV SS
Q9UKW4 VAV3 Guanine nucleotide exchange factor VAV3 Homo sapiens (Human) SS
P27870 Vav1 Proto-oncogene vav Mus musculus (Mouse) EV
Q9R0C8 Vav3 Guanine nucleotide exchange factor VAV3 Mus musculus (Mouse) SS
Q60992 Vav2 Guanine nucleotide exchange factor VAV2 Mus musculus (Mouse) SS
P54100 Vav1 Proto-oncogene vav Rattus norvegicus (Rat) SS
Q45FX5 vav-1 Protein vav-1 Caenorhabditis elegans SS
10 20 30 40 50 60
MEQWRQCGRW LIDCKVLPPN HRVVWPSAVV FDLAQALRDG VLLCQLLHNL SPGSIDLKDI
70 80 90 100 110 120
NFRPQMSQFL CLKNIRTFLK VCHDKFGLRN SELFDPFDLF DVRDFGKVIS AVSRLSLHSI
130 140 150 160 170 180
AQNKGIRPFP SEETTENDDD VYRSLEELAD EHDLGEDIYD CVPCEDGGDD IYEDIIKVEV
190 200 210 220 230 240
QQPMIRYMQK MGMTEDDKRN CCLLEIQETE AKYYRTLEDI EKNYMSPLRL VLSPADMAAV
250 260 270 280 290 300
FINLEDLIKV HHSFLRAIDV SVMVGGSTLA KVFLDFKERL LIYGEYCSHM EHAQNTLNQL
310 320 330 340 350 360
LASREDFRQK VEECTLKVQD GKFKLQDLLV VPMQRVLKYH LLLKELLSHS AERPERQQLK
370 380 390 400 410 420
EALEAMQDLA MYINEVKRDK ETLRKISEFQ SSIENLQVKL EEFGRPKIDG ELKVRSIVNH
430 440 450 460 470 480
TKQDRYLFLF DKVVIVCKRK GYSYELKEII ELLFHKMTDD PMNNKDVKKS HGKMWSYGFY
490 500 510 520 530 540
LIHLQGKQGF QFFCKTEDMK RKWMEQFEMA MSNIKPDKAN ANHHSFQMYT FDKTTNCKAC
550 560 570 580 590 600
KMFLRGTFYQ GYMCTKCGVG AHKECLEVIP PCKFTSPADL DASGAGPGPK MVAMQNYHGN
610 620 630 640 650 660
PAPPGKPVLT FQTGDVLELL RGDPESPWWE GRLVQTRKSG YFPSSSVKPC PVDGRPPISR
670 680 690 700 710 720
PPSREIDYTA YPWFAGNMER QQTDNLLKSH ASGTYLIRER PAEAERFAIS IKFNDEVKHI
730 740 750 760 770 780
KVVEKDNWIH ITEAKKFDSL LELVEYYQCH SLKESFKQLD TTLKYPYKSR ERSASRASSR
790 800 810 820 830 840
SPASCASYNF SFLSPQGLSF ASQGPSAPFW SVFTPRVIGT AVARYNFAAR DMRELSLREG
850 860 870
DVVRIYSRIG GDQGWWKGET NGRIGWFPST YVEEEGIQ