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

6 structures for P32239

Entry ID Method Resolution Chain Position Source
1L4T NMR - A 352-379 PDB
7F8V EM 330 A R 2-418 PDB
7F8W EM 310 A R 2-418 PDB
7XOW EM 310 A R 1-447 PDB
8IA7 EM 310 A R 1-447 PDB
AF-P32239-F1 Predicted AlphaFoldDB

481 variants for P32239

Variant ID(s) Position Change Description Diseaes Association Provenance
TCGA novel 1 M>? Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs548968422
CA217261500
2 E>V No ClinGen
1000Genomes
CA5851708
rs567241409
4 L>I No ClinGen
1000Genomes
ExAC
gnomAD
CA379356270
rs1306856337
8 R>L No ClinGen
TOPMed
gnomAD
rs1306856337
CA379356271
8 R>Q No ClinGen
TOPMed
gnomAD
CA5851710
rs772452674
8 R>W No ClinGen
ExAC
gnomAD
CA5851711
rs776243010
9 S>G No ClinGen
ExAC
gnomAD
COSM1509428
rs199932330
COSM1509427
CA5851712
9 S>R lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA379356281
rs1264030676
10 V>L No ClinGen
gnomAD
CA379356287
rs1490306462
11 Q>E No ClinGen
gnomAD
CA217261561
rs929801752
12 G>E No ClinGen
TOPMed
gnomAD
CA379356313
rs1470052383
15 P>H No ClinGen
Ensembl
CA5851716
rs762737826
16 G>E No ClinGen
ExAC
gnomAD
CA379356316
rs1232414579
16 G>R No ClinGen
TOPMed
gnomAD
CA379356326
rs1161275603
17 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA217261583
rs372993300
18 G>E No ClinGen
ESP
TOPMed
gnomAD
rs754986186
CA5851719
18 G>R No ClinGen
ExAC
gnomAD
rs527427977
CA5851720
19 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA217261584
rs527427977
19 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 19 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA379356349
rs1297076580
22 C>Y No ClinGen
gnomAD
CA217261588
rs755695073
23 R>H No ClinGen
Ensembl
CA379356362
rs1176317129
24 P>Q No ClinGen
TOPMed
rs752845810
CA379356371
26 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs770600950 26 A>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs752845810
CA379356372
26 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA5851723
rs752845810
26 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1259011415
CA379356386
28 L>P No ClinGen
TOPMed
CA5851725
rs778147101
29 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1204146293
CA379356397
30 N>S No ClinGen
gnomAD
rs779400615
CA5851728
33 S>G No ClinGen
ExAC
gnomAD
CA379356423
rs1383319276
33 S>R No ClinGen
gnomAD
TCGA novel 34 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV000896844
CA5851730
rs1805000
VAR_014684
37 L>F No ClinGen
ClinVar
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs539605126
CA5851732
39 C>G No ClinGen
1000Genomes
ExAC
gnomAD
CA5851731
rs539605126
39 C>R No ClinGen
1000Genomes
ExAC
gnomAD
CA379356475
rs1354611265
40 E>D No ClinGen
gnomAD
rs780428468
CA217261656
40 E>K No ClinGen
TOPMed
gnomAD
rs780428468
CA379356464
40 E>Q No ClinGen
TOPMed
gnomAD
rs772860565
CA5851734
41 P>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 42 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA379356491
rs1335250143
42 P>S No ClinGen
TOPMed
gnomAD
rs1382735537
CA379356500
43 R>C No ClinGen
gnomAD
TCGA novel 43 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1454017895
CA379356507
43 R>L No ClinGen
gnomAD
COSM929886
CA5851735
COSM929887
rs141076634
45 R>C endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA379356536
rs1413076960
46 G>A No ClinGen
TOPMed
rs967491641
CA217261660
46 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs202020610
CA217261661
47 A>V No ClinGen
Ensembl
CA5851737
rs150275352
48 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1455133141
CA379356572
49 T>R No ClinGen
TOPMed
rs1192633727
CA379356583
50 R>P No ClinGen
gnomAD
rs80061382
CA217270505
52 L>W No ClinGen
Ensembl
CA379357464
rs1230079114
56 I>V No ClinGen
TOPMed
TCGA novel 57 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5851772
rs755532003
59 T>A No ClinGen
ExAC
gnomAD
CA5851773
rs781629837
59 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA217270526
rs997692643
61 Y>H No ClinGen
gnomAD
CA217270528
rs141038981
62 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM1200126
rs141038981
COSM1200125
CA5851774
62 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs770280641
CA5851775
64 I>F No ClinGen
ExAC
gnomAD
CA5851776
rs770280641
64 I>V No ClinGen
ExAC
gnomAD
rs745565352
CA5851777
65 F>L No ClinGen
ExAC
gnomAD
CA5851778
rs771752485
66 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs775464963
CA5851779
67 M>I No ClinGen
ExAC
gnomAD
rs199875259
CA379357613
68 S>N No ClinGen
gnomAD
CA217270587
rs370954149
CA379357614
68 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs199875259
CA217270580
68 S>T No ClinGen
gnomAD
CA217270593
rs200790455
69 V>A No ClinGen
gnomAD
rs546311690
COSM216881
CA5851781
69 V>I pancreas [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA217270595
rs201706613
71 G>R No ClinGen
Ensembl
rs200073805
CA217270599
73 M>I No ClinGen
TOPMed
rs776668527
CA5851782
73 M>T No ClinGen
ExAC
gnomAD
CA5851785
rs138693892
76 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1212577504
CA379357704
76 I>T No ClinGen
TOPMed
gnomAD
CA5851784
rs138693892
76 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs35816985
CA5851788
77 V>A No ClinGen
ExAC
gnomAD
rs35816985
VAR_049388
CA217270624
77 V>G No ClinGen
UniProt
ExAC
dbSNP
gnomAD
CA5851786
rs193258127
77 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5851787
rs193258127
77 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5851791
rs753090218
79 L>R No ClinGen
ExAC
gnomAD
rs200488852
CA217270631
81 L>P No ClinGen
Ensembl
CA5851792
rs756631152
82 S>R No ClinGen
ExAC
gnomAD
rs201696694
CA5851793
83 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM334990
rs1404061098
CA379357775
COSM334991
83 R>H lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA379357779
rs1404061098
83 R>L No ClinGen
gnomAD
CA5851794
rs148924129
84 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1355489
COSM1355488
rs145658504
CA5851795
84 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5851797
rs746830612
86 R>S No ClinGen
ExAC
gnomAD
CA5851799
rs776721045
87 T>P No ClinGen
ExAC
gnomAD
rs1486107457
CA379357835
COSM929889
COSM929888
88 V>I Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1325525061
CA379357863
90 N>S No ClinGen
gnomAD
rs200387081
CA5851800
92 F>L No ClinGen
1000Genomes
ExAC
gnomAD
CA379357902
rs1291152248
93 L>P No ClinGen
TOPMed
rs201438287
CA5851801
94 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA379357912
rs1320877717
94 L>P No ClinGen
gnomAD
CA5851803
rs763043721
98 V>D No ClinGen
ExAC
gnomAD
CA5851804
rs766621662
99 S>R No ClinGen
ExAC
gnomAD
rs1188045758
CA379357970
100 D>N No ClinGen
gnomAD
rs373467665
CA5851805
101 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1411590493
CA379357989
101 L>H No ClinGen
gnomAD
CA5851806
rs373467665
101 L>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA379358008
rs1213753258
104 A>T No ClinGen
TOPMed
CA5851808
rs375578107
104 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756619590
CA5851809
106 A>S No ClinGen
ExAC
rs201222197
CA5851810
106 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5851811
rs749922856
107 C>F No ClinGen
ExAC
gnomAD
CA379358094
rs1406763655
110 F>L No ClinGen
gnomAD
CA379358096
rs1590671742
111 T>P No ClinGen
Ensembl
CA217270692
rs878960000
114 P>L No ClinGen
gnomAD
CA379358136
rs878960000
114 P>R No ClinGen
gnomAD
rs779855587
CA5851814
115 N>S No ClinGen
ExAC
gnomAD
rs1364331877
CA379358155
116 L>I No ClinGen
TOPMed
rs762025188
CA217270696
124 T>I No ClinGen
Ensembl
rs1805002
CA5851815
VAR_014685
125 V>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs754661690
CA5851816
128 K>R No ClinGen
ExAC
gnomAD
CA5851817
rs781195547
129 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA5851820
rs773163565
130 V>D No ClinGen
ExAC
gnomAD
CA379358364
rs1590671787
132 Y>S No ClinGen
Ensembl
CA5851821
rs142903629
133 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1564888062
CA379358394
134 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs766229492
COSM304619
CA217270718
COSM304620
135 G>W large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1485181507
CA379358483
136 V>M No ClinGen
TOPMed
gnomAD
rs1001128125
CA217270808
137 S>A No ClinGen
TOPMed
CA217270809
rs199905181
137 S>C No ClinGen
Ensembl
rs1258144253
CA379358515
138 V>A No ClinGen
TOPMed
rs762474431
CA5851849
139 S>N No ClinGen
ExAC
gnomAD
CA379358535
rs1181750019
140 V>M No ClinGen
TOPMed
rs751160427
CA5851851
144 S>N No ClinGen
ExAC
gnomAD
CA5851853
rs201465636
146 V>L No ClinGen
ExAC
TOPMed
gnomAD
COSM1242105
COSM1242104
CA217270826
rs201465636
146 V>M Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs146802326
CA5851854
147 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA379358627
rs1156859888
148 I>V No ClinGen
TOPMed
gnomAD
rs1323044843
CA379358639
149 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1564888216
CA379358649
149 A>V No ClinGen
Ensembl
rs777692103
CA5851856
152 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 154 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA379358723
rs1246989284
154 S>R No ClinGen
gnomAD
CA217270836
rs200123314
157 C>Y No ClinGen
Ensembl
CA379358767
rs1292305168
158 R>G No ClinGen
gnomAD
CA5851859
rs148250134
158 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5851858
COSM179420
rs148250134
158 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1252003568
CA379358785
159 P>L No ClinGen
gnomAD
rs745978677
CA5851860
159 P>S No ClinGen
ExAC
gnomAD
CA217270850
rs202110075
161 Q>* No ClinGen
gnomAD
CA379358809
rs1382424641
162 A>T No ClinGen
TOPMed
rs201256074
CA379358836
164 V>E No ClinGen
gnomAD
CA217270855
rs201256074
164 V>G No ClinGen
gnomAD
rs200320502
CA5851863
164 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs200320502
CA5851864
164 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA5851866
rs202143110
167 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5851867
rs200448039
168 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA217270866
rs934379707
168 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 170 H>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201267768
CA217270868
171 A>S No ClinGen
TOPMed
CA5851868
rs199662788
173 R>G No ClinGen
ExAC
gnomAD
rs773790618
CA379358892
173 R>H No ClinGen
ExAC
gnomAD
rs773790618
CA5851869
173 R>L No ClinGen
ExAC
gnomAD
rs1335403469
CA379358898
174 V>A No ClinGen
gnomAD
rs1335403469
CA379358899
174 V>G No ClinGen
gnomAD
CA5851870
rs759134569
176 V>A No ClinGen
ExAC
gnomAD
CA217270901
rs200521559
178 T>A No ClinGen
Ensembl
rs971207895
CA217270908
178 T>K No ClinGen
TOPMed
gnomAD
CA379358923
rs774859017
179 W>G No ClinGen
ExAC
TOPMed
gnomAD
CA5851872
rs774859017
179 W>R No ClinGen
ExAC
TOPMed
gnomAD
CA5851873
rs201769877
180 L>V No ClinGen
1000Genomes
ExAC
gnomAD
CA5851875
rs753657482
181 L>P No ClinGen
ExAC
gnomAD
CA5851877
rs765162201
183 G>V No ClinGen
ExAC
gnomAD
rs758253674
CA5851879
185 L>F No ClinGen
ExAC
gnomAD
CA5851880
rs780243339
187 V>M No ClinGen
ExAC
gnomAD
rs747024445
COSM3416083
COSM3416082
CA5851881
188 P>S Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 190 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA379359002
rs1225115220
192 Y>F No ClinGen
gnomAD
CA217270964
rs927194481
193 T>A No ClinGen
Ensembl
rs958570170
CA217270971
193 T>S No ClinGen
Ensembl
CA5851883
rs781511941
194 V>A No ClinGen
ExAC
gnomAD
rs1277674400
CA379359015
195 V>L No ClinGen
TOPMed
gnomAD
CA5851884
rs748531144
196 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA379359033
rs1406027018
197 P>L No ClinGen
gnomAD
TCGA novel 197 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1590672371
CA379359030
197 P>T No ClinGen
Ensembl
CA5851885
rs770228241
198 V>L No ClinGen
ExAC
gnomAD
CA379359053
rs1230027614
201 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA5851886
rs140614653
201 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1435157516
CA379359086
206 V>A No ClinGen
Ensembl
CA5851887
COSM429487
COSM429488
rs749874540
206 V>M Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA379359098
rs1221788949
208 R>C Variant assessed as Somatic; 4.713e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5851889
rs775117809
208 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs775117809
CA217270983
208 R>P No ClinGen
ExAC
gnomAD
CA5851890
rs760056340
209 W>R No ClinGen
ExAC
gnomAD
CA5851891
rs763838521
210 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA5851893
rs761610164
211 S>G No ClinGen
ExAC
gnomAD
rs765074308
CA5851895
211 S>I No ClinGen
ExAC
gnomAD
CA379359115
rs765074308
211 S>N No ClinGen
ExAC
gnomAD
CA5851894
rs765074308
211 S>T No ClinGen
ExAC
gnomAD
CA5851897
rs201033271
212 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199758457
CA217271040
212 A>T No ClinGen
Ensembl
rs201033271
CA379359121
212 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA379359124
rs200729292
213 R>L No ClinGen
gnomAD
CA217271045
COSM1509414
rs200729292
COSM1509413
213 R>Q lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs751679166
CA379359126
214 V>F No ClinGen
ExAC
TOPMed
rs751679166
CA5851898
214 V>I No ClinGen
ExAC
TOPMed
rs754950256
COSM1247594
COSM1247593
CA5851899
215 R>C oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1805004
CA5851900
VAR_014686
215 R>H No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1805004
CA379359134
215 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199910607
CA5851901
216 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs756403803
CA5851902
218 W>* No ClinGen
ExAC
gnomAD
CA379359191
rs1454524930
219 S>F No ClinGen
TOPMed
rs1315626149
CA379359185
219 S>T No ClinGen
TOPMed
rs933037812
CA217271297
220 V>A No ClinGen
Ensembl
rs202054062
CA217271272
220 V>I No ClinGen
TOPMed
CA217271292
rs202054062
220 V>L No ClinGen
TOPMed
rs1309695318
CA379359209
221 L>R No ClinGen
gnomAD
CA5851923
rs370582039
223 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1243234490
COSM179421
CA379359236
225 L>F large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs757494912
CA5851924
226 L>V No ClinGen
ExAC
gnomAD
rs139218428
CA5851925
228 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1270326305
CA379359275
229 I>T No ClinGen
gnomAD
rs772562173
CA5851927
230 P>L No ClinGen
ExAC
gnomAD
CA5851928
rs780717856
231 G>A No ClinGen
ExAC
rs780717856
CA379359295
231 G>D No ClinGen
ExAC
rs1164712644
CA379359328
234 M>I No ClinGen
TOPMed
CA217271340
rs202100770
234 M>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs202100770
CA5851929
234 M>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201213697
CA217271318
234 M>V No ClinGen
Ensembl
rs769455834
CA5851930
235 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA379359833
rs1590672939
236 V>G No ClinGen
Ensembl
CA5851932
rs762822975
237 A>T No ClinGen
ExAC
gnomAD
rs1395931359
CA379359853
238 Y>S No ClinGen
TOPMed
gnomAD
rs774195347
CA5851934
239 G>R No ClinGen
ExAC
gnomAD
rs200174598
CA5851936
241 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200320202
CA217271395
243 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs760799719
COSM1200129
COSM1200130
CA5851938
243 R>H large_intestine Variant assessed as Somatic; 9.252e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA379359904
rs760799719
243 R>L No ClinGen
ExAC
gnomAD
CA379359900
rs200320202
243 R>S No ClinGen
TOPMed
gnomAD
TCGA novel 244 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs936879432
CA217271406
246 Y>H No ClinGen
gnomAD
CA217271408
CA5851942
rs779211798
248 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1564888701
CA379359973
248 G>V No ClinGen
Ensembl
COSM1703501
rs865919804
CA217271411
COSM1703502
250 R>C pancreas skin [Cosmic] No ClinGen
cosmic curated
TOPMed
rs750768325
CA5851945
250 R>L No ClinGen
ExAC
gnomAD
rs750768325
CA5851944
250 R>P No ClinGen
ExAC
gnomAD
CA5851947
rs747685589
252 D>E No ClinGen
ExAC
gnomAD
rs375063663
CA5851948
253 G>S No ClinGen
ESP
ExAC
gnomAD
rs1478196188
CA379360040
254 D>G No ClinGen
gnomAD
CA379360034
rs1372506488
254 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA217271434
rs892754588
255 S>G No ClinGen
Ensembl
rs777327157
CA5851949
255 S>I No ClinGen
ExAC
CA5851952
rs774066959
257 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA379360097
rs1302022475
258 D>G No ClinGen
gnomAD
rs1564888761
CA379360092
258 D>N No ClinGen
Ensembl
rs906537966
CA217271475
259 S>R No ClinGen
Ensembl
rs745609388
CA5851953
260 Q>* No ClinGen
ExAC
gnomAD
CA5851954
rs147152156
260 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5851956
rs775503670
262 R>G No ClinGen
ExAC
rs1315793560
CA379360151
262 R>T No ClinGen
gnomAD
CA5851955
rs775503670
262 R>W No ClinGen
ExAC
rs199693152
CA217271492
263 V>L No ClinGen
Ensembl
rs764136497
COSM1200123
CA5851957
COSM1200124
264 R>* large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA5851958
rs200601279
264 R>Q No ClinGen
ExAC
gnomAD
rs761981311
CA5851959
266 Q>* No ClinGen
ExAC
gnomAD
rs765471840
CA5851960
267 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs750804920
COSM1200128
COSM1200127
CA5851961
268 G>R Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs201064391
CA5851962
270 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA217271830
rs199930350
271 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs199930350
CA5852009
271 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA5852010
rs140350741
272 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367917726
CA217271837
274 H>Q No ClinGen
ESP
TOPMed
rs1314863781
CA379361259
274 H>Y No ClinGen
gnomAD
CA379361270
rs1305910136
275 Q>E No ClinGen
gnomAD
CA217271845
rs201036187
275 Q>P No ClinGen
Ensembl
CA379361286
rs1257401270
276 N>D No ClinGen
gnomAD
CA5852012
rs758173202
277 G>E No ClinGen
ExAC
gnomAD
rs145313566
CA217271851
COSM94024
278 R>H lung [Cosmic] No ClinGen
cosmic curated
ESP
TOPMed
rs145313566
CA379361315
278 R>P No ClinGen
ESP
TOPMed
CA5852013
rs144317623
278 R>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5852014
rs557999450
279 C>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA217271855
rs202141196
280 R>P No ClinGen
TOPMed
CA5852015
rs754731863
280 R>W No ClinGen
ExAC
gnomAD
rs1461554621
CA379361356
281 P>S No ClinGen
TOPMed
CA379361374
rs1564889024
282 E>V No ClinGen
Ensembl
CA379361382
rs1170563126
283 T>A No ClinGen
gnomAD
CA379361386
rs1271376752
283 T>I No ClinGen
gnomAD
rs1425020333
CA379361408
284 G>A No ClinGen
gnomAD
CA5852019
rs777883079
285 A>T No ClinGen
ExAC
TOPMed
gnomAD
COSM239211
CA5852020
COSM239210
rs749320440
285 A>V Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs200973903
CA5852022
286 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5852023
rs759831741
287 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA5852027
rs200976920
289 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA5852025
rs371750197
289 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5852026
rs371750197
289 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA379361497
rs1564889081
290 S>N No ClinGen
Ensembl
CA379361508
rs1220407751
290 S>R No ClinGen
gnomAD
rs540451185
CA5852028
291 D>G No ClinGen
1000Genomes
ExAC
gnomAD
CA379361523
rs1276160115
291 D>H No ClinGen
gnomAD
CA379361526
rs1276160115
291 D>Y No ClinGen
gnomAD
rs1564889096
CA379361569
293 C>Y No ClinGen
Ensembl
rs751163301
CA5852031
295 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA379361614
COSM1355496
COSM1355497
rs1385850242
295 V>M large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs200339576
CA5852032
296 Q>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1445700251
CA379361675
298 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1450663271
CA379361688
299 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs752415795
CA5852034
300 S>P No ClinGen
ExAC
gnomAD
CA5852035
rs756071960
301 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA379361709
rs756071960
301 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1171410975
CA379361707
301 R>W No ClinGen
TOPMed
gnomAD
CA379361726
rs1358815992
302 P>L No ClinGen
gnomAD
rs749374907
CA5852037
302 P>S No ClinGen
ExAC
gnomAD
rs142419010
CA379361761
305 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142419010
CA5852038
305 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA379361789
rs1590673819
306 L>R No ClinGen
Ensembl
rs1590673824
CA379361799
307 T>A No ClinGen
Ensembl
rs202204639
CA5852039
307 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1445195822
CA379361806
308 A>T No ClinGen
TOPMed
CA379361822
rs1181500642
308 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA379361830
rs1342457040
309 L>P No ClinGen
TOPMed
gnomAD
CA217271921
rs376332235
310 T>K No ClinGen
ESP
TOPMed
gnomAD
CA379361851
rs1461455833
311 A>T No ClinGen
TOPMed
gnomAD
CA379361864
rs1259633736
312 P>S No ClinGen
TOPMed
CA5852044
rs747287727
313 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs201237450
CA217271939
313 G>R No ClinGen
gnomAD
rs201626406
CA5852045
314 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201626406
CA379361895
314 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA217271949
rs200262698
315 G>A No ClinGen
Ensembl
rs544323198
CA5852047
317 G>R No ClinGen
1000Genomes
ExAC
gnomAD
CA5852049
rs773727589
318 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA5852051
VAR_014687
rs1805001
319 R>Q No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA5852050
rs113168010
319 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201374522
CA5852052
320 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5852053
rs755843090
321 T>I No ClinGen
ExAC
CA217271987
rs199633246
322 Q>* No ClinGen
gnomAD
CA5852055
rs151322840
322 Q>R No ClinGen
ESP
ExAC
gnomAD
CA5852056
rs757183608
323 A>T No ClinGen
ExAC
gnomAD
rs1330405100
CA379362046
323 A>V No ClinGen
gnomAD
rs779087210
CA5852057
324 K>E No ClinGen
ExAC
gnomAD
TCGA novel 325 L>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200736965
CA379362069
325 L>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA379362071
rs200736965
325 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA379362078
rs1374387026
326 L>V No ClinGen
TOPMed
gnomAD
CA5852060
rs200700735
329 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA217272004
rs185405927
329 K>R No ClinGen
1000Genomes
TOPMed
gnomAD
CA5852061
rs747382508
330 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs953750132
CA217272007
330 R>L No ClinGen
TOPMed
gnomAD
CA379362139
rs747382508
330 R>S No ClinGen
ExAC
gnomAD
CA379362162
rs1224436970
331 V>L No ClinGen
gnomAD
rs1224436970
CA379362165
COSM1735081
COSM1735080
331 V>M pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1590674082
CA379362187
332 V>G No ClinGen
Ensembl
rs777122005
CA5852063
332 V>L No ClinGen
ExAC
gnomAD
CA217272012
rs1017770527
333 R>* No ClinGen
Ensembl
CA379362197
rs1564889255
333 R>L No ClinGen
Ensembl
rs758929674
CA5852067
339 V>A No ClinGen
ExAC
gnomAD
rs773936454
CA5852066
339 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA379362293
rs773936454
339 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA5852072
rs75576436
341 L>F No ClinGen
ExAC
CA5852071
rs75576436
341 L>V No ClinGen
ExAC
CA379362322
rs1292533591
342 F>L No ClinGen
gnomAD
CA5852073
rs753601546
343 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1327917712
CA379362385
346 W>* No ClinGen
gnomAD
rs761785922
CA5852074
347 L>F No ClinGen
ExAC
gnomAD
rs1233972793
CA379362409
348 P>L No ClinGen
gnomAD
rs1309756052
CA379362444
351 S>G No ClinGen
gnomAD
rs765032135
CA5852075
352 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5852076
rs140742189
353 N>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs918426340
CA217272042
354 T>M No ClinGen
TOPMed
rs751887877
CA5852080
355 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs755245323
COSM1298345
COSM1298346
CA5852081
356 R>C Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1457572061
CA379362518
356 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA217272069
rs780352247
358 F>C No ClinGen
Ensembl
rs1240435771
CA379362545
358 F>L No ClinGen
gnomAD
rs748476238
CA5852083
359 D>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 359 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1301153807
CA379362579
361 P>R No ClinGen
TOPMed
CA379362604
rs1473847484
363 A>V No ClinGen
gnomAD
CA379362619
rs1166975307
364 H>Q No ClinGen
gnomAD
CA5852085
rs778076555
365 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs778076555
CA379362621
365 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs745396843
CA5852086
366 A>S No ClinGen
ExAC
gnomAD
rs914042542
CA217272081
367 L>F No ClinGen
gnomAD
CA5852088
rs771833429
368 S>W No ClinGen
ExAC
gnomAD
CA379362693
rs1330480408
371 P>R No ClinGen
Ensembl
rs1275790146
CA379362750
376 H>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA379362782
rs199896310
378 L>V No ClinGen
1000Genomes
TOPMed
CA379362798
rs1219795966
379 S>N No ClinGen
TOPMed
gnomAD
rs937985143
CA217272110
380 Y>C No ClinGen
Ensembl
rs200919066
CA217272123
381 A>P No ClinGen
1000Genomes
ExAC
gnomAD
CA5852092
rs200919066
381 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA5852093
rs765220669
382 S>W No ClinGen
ExAC
gnomAD
rs1451554986
CA379362844
383 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA217272129
COSM1703506
COSM1703505
rs201876764
383 A>V Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA379362866
rs1230887722
384 C>G No ClinGen
Ensembl
rs1257179256
CA379362889
386 N>H No ClinGen
gnomAD
CA379362896
CA217272137
rs141279039
386 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200384464
CA217272134
386 N>S No ClinGen
TOPMed
rs762933442
CA379362897
387 P>A No ClinGen
ExAC
gnomAD
CA5852096
rs766435444
387 P>L No ClinGen
ExAC
gnomAD
CA379362904
rs766435444
387 P>R No ClinGen
ExAC
gnomAD
rs762933442
CA5852095
387 P>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA379362913
rs201338739
388 L>P No ClinGen
TOPMed
rs201338739
CA217272158
388 L>R No ClinGen
TOPMed
rs202203262
CA217272162
393 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs1475288494
COSM1509409
COSM1509410
CA379362963
393 M>T lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs202203262
CA5852097
393 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs755275816
CA5852098
394 H>P No ClinGen
ExAC
gnomAD
COSM120852
CA379362980
rs1464401179
395 R>C upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
gnomAD
CA379362979
rs1464401179
395 R>G No ClinGen
gnomAD
CA379362986
rs200480495
395 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200480495
CA379362988
395 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5852099
rs200480495
395 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201721347
COSM328520
CA379362989
COSM328519
396 R>C kidney [Cosmic] No ClinGen
cosmic curated
gnomAD
CA379362990
rs201721347
396 R>G No ClinGen
gnomAD
CA5852100
rs753116644
396 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA217272174
rs201721347
396 R>S No ClinGen
gnomAD
CA379363001
rs1339276973
398 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA379363004
rs897640161
398 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs897640161
CA217272191
398 R>L No ClinGen
TOPMed
gnomAD
CA5852102
rs756376172
399 Q>* No ClinGen
ExAC
gnomAD
CA379363013
rs145064936
400 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5852104
rs145064936
400 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA379363014
rs145064936
400 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA217272200
rs993321475
401 C>G No ClinGen
gnomAD
CA379363026
rs1389460447
402 L>V No ClinGen
TOPMed
CA379363034
rs1399351166
403 E>G No ClinGen
TOPMed
CA5852107
rs76115904
404 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs200268499
CA217272215
404 T>S No ClinGen
gnomAD
rs201366169
CA379363047
405 C>* No ClinGen
gnomAD
CA379363048
rs201366169
405 C>W No ClinGen
gnomAD
rs746470052
CA5852109
405 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs199726670
COSM3356225
CA5852110
COSM3356226
406 A>T haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
TCGA novel 406 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA379363055
rs1431400028
407 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1431400028
CA379363056
407 R>G No ClinGen
TOPMed
gnomAD
CA379363057
rs1197838113
407 R>H No ClinGen
gnomAD
CA379363059
rs1197838113
407 R>L No ClinGen
gnomAD
rs1436121738
CA379363062
408 C>S No ClinGen
gnomAD
rs776196223
CA5852111
408 C>S No ClinGen
ExAC
gnomAD
rs769534576
CA379363078
410 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs769534576
CA5852113
410 P>R No ClinGen
ExAC
TOPMed
gnomAD
COSM1509407
rs761678173
COSM1509408
CA5852112
410 P>T lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs138829785
CA5852116
411 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5852115
rs138829785
411 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5852114
rs773055083
411 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA5852118
rs369943403
413 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA217272253
rs369943403
413 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA217272262
rs866773703
414 R>G No ClinGen
TOPMed
gnomAD
rs200728380
CA217272268
414 R>L No ClinGen
gnomAD
rs200728380
CA217272265
414 R>P No ClinGen
gnomAD
CA5852119
rs202056290
415 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA5852120
COSM1582101
rs753026530
COSM1582102
416 R>C Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA5852122
rs764410444
416 R>H No ClinGen
ExAC
gnomAD
rs764410444
CA5852123
416 R>L No ClinGen
ExAC
gnomAD
CA5852121
rs753026530
416 R>S No ClinGen
ExAC
gnomAD
CA5852125
rs149293522
417 P>T No ClinGen
ESP
ExAC
TOPMed
rs1487430804
CA379363107
418 R>K No ClinGen
gnomAD
CA379363112
rs1209167972
419 A>T No ClinGen
TOPMed
gnomAD
CA379363122
rs1253386564
420 L>P No ClinGen
gnomAD
CA5852128
rs144569397
422 D>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA217272290
rs144569397
422 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5852127
rs746523028
422 D>H No ClinGen
ExAC
TOPMed
gnomAD
COSM3416084
CA5852126
rs746523028
COSM3416085
422 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5852129
rs199904879
423 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1160586178
CA379363141
424 D>N No ClinGen
gnomAD
rs200777432
CA5852130
424 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA379363149
rs1403401089
425 P>A No ClinGen
TOPMed
rs201461045
CA217272307
425 P>L No ClinGen
Ensembl
rs774373253
CA5852134
427 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs774373253
CA379363163
427 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs767776959
CA5852136
429 S>C No ClinGen
ExAC
gnomAD
CA5852135
rs555585232
429 S>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1377861254
CA379363178
430 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs775612982
CA5852137
430 I>V No ClinGen
ExAC
rs148059332
CA5852138
432 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148059332
CA5852139
432 S>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1446871767
CA379363201
435 R>G No ClinGen
TOPMed
rs1321262687
CA379363210
436 L>F No ClinGen
gnomAD
rs185780554
CA5852141
440 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA379363251
rs1564889665
441 I>M No ClinGen
Ensembl
rs1019330470
CA217272351
442 S>R No ClinGen
TOPMed
gnomAD
TCGA novel 444 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5852143
rs750982132
445 G>D No ClinGen
ExAC
gnomAD
CA5852145
rs201934652
446 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 448 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with P32239

1 regional properties for P32239

Type Name Position InterPro Accession
domain GPCR, rhodopsin-like, 7TM 43 - 301 IPR017452

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

6 GO annotations of molecular function

Name Definition
1-phosphatidylinositol-3-kinase regulator activity Modulates the activity of the enzyme 1-phosphatidylinositol-3-kinase activity.
cholecystokinin receptor activity Combining with cholecystokinin and transmitting the signal across the membrane by activating an associated G-protein to initiate a change in cell activity. Cholecystokinin can act as a neuropeptide or as a gastrointestinal hormone.
G protein-coupled receptor activity Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex.
gastrin receptor activity Combining with gastrin and transmitting the signal across the membrane by activating an associated G-protein to initiate a change in cell activity.
peptide hormone binding Binding to a peptide with hormonal activity in animals.
type B gastrin/cholecystokinin receptor binding Binding to a type B gastrin/cholecystokinin receptor.

10 GO annotations of biological process

Name Definition
cell surface receptor signaling pathway The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
cholecystokinin signaling pathway A G protein-coupled receptor signaling pathway initiated by cholecystokinin binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
digestive tract development The process whose specific outcome is the progression of the digestive tract over time, from its formation to the mature structure. The digestive tract is the anatomical structure through which food passes and is processed.
G protein-coupled receptor signaling pathway The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.
gastric acid secretion The regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion.
gland development The process whose specific outcome is the progression of a gland over time, from its formation to the mature structure. A gland is an organ specialised for secretion.
pH reduction Any process that reduces the internal pH of an organism, part of an organism or a cell, measured by the concentration of the hydrogen ion.
phospholipase C-activating G protein-coupled receptor signaling pathway A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of phospholipase C (PLC) and a subsequent increase in the intracellular concentration of inositol trisphosphate (IP3) and diacylglycerol (DAG).
positive regulation of cell population proliferation Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of cytosolic calcium ion concentration Any process that increases the concentration of calcium ions in the cytosol.

120 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q2YDN1 GPR161 G protein-coupled receptor 161 Bos taurus (Bovine) PR
Q0GBZ5 HCRTR1 Orexin/Hypocretin receptor type 1 Bos taurus (Bovine) PR
Q17QD8 GPR37L1 G-protein coupled receptor 37-like 1 Bos taurus (Bovine) PR
Q8SPN1 PROKR2 Prokineticin receptor 2 Bos taurus (Bovine) PR
P46626 ADRB3 Beta-3 adrenergic receptor Bos taurus (Bovine) PR
O46639 TRHR Thyrotropin-releasing hormone receptor Bos taurus (Bovine) PR
Q8SPN2 PROKR1 Prokineticin receptor 1 Bos taurus (Bovine) PR
B9VR26 CMLKR1 Chemerin-like receptor 1 Bos taurus (Bovine) PR
P18130 ADRA1A Alpha-1A adrenergic receptor Bos taurus (Bovine) PR
B4XF06 GPR39 G-protein coupled receptor 39 Bos taurus (Bovine) PR
O18913 OPN1LW Long-wave-sensitive opsin 1 Felis catus (Cat) (Felis silvestris catus) PR
P28683 PRA1 Green-sensitive opsin Gallus gallus (Chicken) PR
Q9N298 HTR1A 5-hydroxytryptamine receptor 1A Pan troglodytes (Chimpanzee) PR
P30552 CCKBR Gastrin/cholecystokinin type B receptor Canis lupus familiaris (Dog) (Canis familiaris) PR
P08099 Rh2 Opsin Rh2 Drosophila melanogaster (Fruit fly) PR
P06002 ninaE Opsin Rh1 Drosophila melanogaster (Fruit fly) PR
Q4LBB9 Octbeta2R Octopamine receptor beta-2R Drosophila melanogaster (Fruit fly) PR
Q8NFJ6 PROKR2 Prokineticin receptor 2 Homo sapiens (Human) PR
Q13585 GPR50 Melatonin-related receptor Homo sapiens (Human) PR
Q9BZJ6 GPR63 Probable G-protein coupled receptor 63 Homo sapiens (Human) PR
Q9H3N8 HRH4 Histamine H4 receptor Homo sapiens (Human) PR
P28336 NMBR Neuromedin-B receptor Homo sapiens (Human) PR
Q9Y5Y3 GPR45 Probable G-protein coupled receptor 45 Homo sapiens (Human) PR
P08913 ADRA2A Alpha-2A adrenergic receptor Homo sapiens (Human) PR
P41597 CCR2 C-C chemokine receptor type 2 Homo sapiens (Human) PR
P51681 CCR5 C-C chemokine receptor type 5 Homo sapiens (Human) PR
Q8TCW9 PROKR1 Prokineticin receptor 1 Homo sapiens (Human) PR
Q99788 CMKLR1 Chemerin-like receptor 1 Homo sapiens (Human) PR
P08908 HTR1A 5-hydroxytryptamine receptor 1A Homo sapiens (Human) PR
P30559 OXTR Oxytocin receptor Homo sapiens (Human) PR
O60883 GPR37L1 G-protein coupled receptor 37-like 1 Homo sapiens (Human) PR
Q8TDU9 RXFP4 Relaxin-3 receptor 2 Homo sapiens (Human) PR
P04000 OPN1LW Long-wave-sensitive opsin 1 Homo sapiens (Human) PR
Q6U736 OPN5 Opsin-5 Homo sapiens (Human) PR
P34972 CNR2 Cannabinoid receptor 2 Homo sapiens (Human) PR
P24530 EDNRB Endothelin receptor type B Homo sapiens (Human) PR
P35348 ADRA1A Alpha-1A adrenergic receptor Homo sapiens (Human) PR
Q6W5P4 NPSR1 Neuropeptide S receptor Homo sapiens (Human) PR
O43613 HCRTR1 Orexin/Hypocretin receptor type 1 Homo sapiens (Human) PR
P61073 CXCR4 C-X-C chemokine receptor type 4 Homo sapiens (Human) PR
Q9BXC0 HCAR1 Hydroxycarboxylic acid receptor 1 Homo sapiens (Human) PR
P30556 AGTR1 Type-1 angiotensin II receptor Homo sapiens (Human) PR
Q15761 NPY5R Neuropeptide Y receptor type 5 Homo sapiens (Human) PR
Q8N6U8 GPR161 G-protein coupled receptor 161 Homo sapiens (Human) PR
Q6DWJ6 GPR139 Probable G-protein coupled receptor 139 Homo sapiens (Human) PR
P21462 FPR1 fMet-Leu-Phe receptor Homo sapiens (Human) PR
P35414 APLNR Apelin receptor Homo sapiens (Human) PR
P46091 CMKLR2 Chemerin-like receptor 2 Homo sapiens (Human) PR
P32745 SSTR3 Somatostatin receptor type 3 Homo sapiens (Human) PR
P41439 FOLR3 Folate receptor gamma Homo sapiens (Human) PR
P19973 Lsp1 Lymphocyte-specific protein 1 Mus musculus (Mouse) PR
O54799 Nmbr Neuromedin-B receptor Mus musculus (Mouse) PR
Q64264 Htr1a 5-hydroxytryptamine receptor 1A Mus musculus (Mouse) PR
P51675 Ccr1 C-C chemokine receptor type 1 Mus musculus (Mouse) PR
Q5U431 Gpr39 G-protein coupled receptor 39 Mus musculus (Mouse) PR
Q99JG2 Gpr37l1 G-protein coupled receptor 37-like 1 Mus musculus (Mouse) PR
P97295 Npy2r Neuropeptide Y receptor type 2 Mus musculus (Mouse) PR
O08786 Cckar Cholecystokinin receptor type A Mus musculus (Mouse) PR
P30731 Gpr83 G-protein coupled receptor 83 Mus musculus (Mouse) PR
P97468 Cmklr1 Chemerin-like receptor 1 Mus musculus (Mouse) PR
P21761 Trhr Thyrotropin-releasing hormone receptor Mus musculus (Mouse) PR
Q5QD16 Taar3 Trace amine-associated receptor 3 Mus musculus (Mouse) PR
P97292 Hrh2 Histamine H2 receptor Mus musculus (Mouse) PR
Q9EQQ3 Gpr63 Probable G-protein coupled receptor 63 Mus musculus (Mouse) PR
Q924H0 Npffr2 Neuropeptide FF receptor 2 Mus musculus (Mouse) PR
P34971 Adrb1 Beta-1 adrenergic receptor Mus musculus (Mouse) PR
Q91ZY2 Hrh4 Histamine H4 receptor Mus musculus (Mouse) PR
O88416 Gpr33 Probable G-protein coupled receptor 33 Mus musculus (Mouse) PR
Q8K087 Cmklr2 Chemerin-like receptor 2 Mus musculus (Mouse) PR
P70658 Cxcr4 C-X-C chemokine receptor type 4 Mus musculus (Mouse) PR
Q9WV08 Aplnr Apelin receptor Mus musculus (Mouse) PR
P97718 Adra1a Alpha-1A adrenergic receptor Mus musculus (Mouse) PR
Q8BZP8 Npsr1 Neuropeptide S receptor Mus musculus (Mouse) PR
Q8K458 Prokr2 Prokineticin receptor 2 Mus musculus (Mouse) PR
P58308 Hcrtr2 Orexin receptor type 2 Mus musculus (Mouse) PR
Q7TQP3 Gpr119 Glucose-dependent insulinotropic receptor Mus musculus (Mouse) PR
Q8BGE9 Rxfp3 Relaxin-3 receptor 1 Mus musculus (Mouse) PR
Q6VZZ7 Opn5 Opsin-5 Mus musculus (Mouse) PR
Q8CIM5 Gpr84 G-protein coupled receptor 84 Mus musculus (Mouse) PR
P25962 Adrb3 Beta-3 adrenergic receptor Mus musculus (Mouse) PR
Q80UC8 Gpr139 Probable G-protein coupled receptor 139 Mus musculus (Mouse) PR
P0C5I1 Gpr25 Probable G-protein coupled receptor 25 Mus musculus (Mouse) PR
P47936 Cnr2 Cannabinoid receptor 2 Mus musculus (Mouse) PR
Q5QD13 Taar6 Trace amine-associated receptor 6 Mus musculus (Mouse) PR
P35846 Folr1 Folate receptor alpha Mus musculus (Mouse) PR
P58307 Hcrtr1 Orexin/Hypocretin receptor type 1 Mus musculus (Mouse) PR
Q8C131 Hcar1 Hydroxycarboxylic acid receptor 1 Mus musculus (Mouse) PR
Q9EQQ4 Gpr45 Probable G-protein coupled receptor 45 Mus musculus (Mouse) PR
B2RPY5 Gpr161 G-protein coupled receptor 161 Mus musculus (Mouse) PR
P56481 Cckbr Gastrin/cholecystokinin type B receptor Mus musculus (Mouse) PR
Q764M9 CXCR4 C-X-C chemokine receptor type 4 Sus scrofa (Pig) PR
Q9EQD2 Npffr2 Neuropeptide FF receptor 2 Rattus norvegicus (Rat) PR
O08565 Cxcr4 C-X-C chemokine receptor type 4 Rattus norvegicus (Rat) PR
Q01717 Trhr Thyrotropin-releasing hormone receptor Rattus norvegicus (Rat) PR
P30936 Sstr3 Somatostatin receptor type 3 Rattus norvegicus (Rat) PR
Q9JHG3 Aplnr Apelin receptor Rattus norvegicus (Rat) PR
P43140 Adra1a Alpha-1A adrenergic receptor Rattus norvegicus (Rat) PR
P19327 Htr1a 5-hydroxytryptamine receptor 1A Rattus norvegicus (Rat) PR
P56719 Hcrtr2 Orexin receptor type 2 Rattus norvegicus (Rat) PR
P28564 Htr1b 5-hydroxytryptamine receptor 1B Rattus norvegicus (Rat) PR
P56718 Hcrtr1 Orexin/Hypocretin receptor type 1 Rattus norvegicus (Rat) PR
P28647 Adora3 Adenosine receptor A3 Rattus norvegicus (Rat) PR
P25102 Hrh2 Histamine H2 receptor Rattus norvegicus (Rat) PR
P23944 Adra1d Alpha-1D adrenergic receptor Rattus norvegicus (Rat) PR
Q8R415 Prokr2 Prokineticin receptor 2 Rattus norvegicus (Rat) PR
Q5QD24 Taar3 Trace amine-associated receptor 3 Rattus norvegicus (Rat) PR
P0C0W8 Gpr139 Probable G-protein coupled receptor 139 Rattus norvegicus (Rat) PR
P35370 Oprl1 Nociceptin receptor Rattus norvegicus (Rat) PR
P46090 Cmklr2 Chemerin-like receptor 2 Rattus norvegicus (Rat) PR
O97664 CMKLR2 Chemerin-like receptor 2 Macaca mulatta (Rhesus macaque) PR
O97666 APLNR Apelin receptor Macaca mulatta (Rhesus macaque) PR
Q56H79 NPSR1 Neuropeptide S receptor Macaca mulatta (Rhesus macaque) PR
Q18904 npr-8 Probable G-protein coupled receptor npr-8 Caenorhabditis elegans PR
Q09388 gar-2 Muscarinic acetylcholine receptor gar-2 Caenorhabditis elegans PR
B3DM66 gpr161 G-protein coupled receptor 161 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q9W6A6 opn1mw4 Green-sensitive opsin-4 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q9W6A5 opn1mw1 Green-sensitive opsin-1 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q8AYM7 opn1mw3 Green-sensitive opsin-3 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q8AYN0 opn1lw2 Red-sensitive opsin-2 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q90X46 gpr161 G-protein coupled receptor 161 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MELLKLNRSV QGTGPGPGAS LCRPGAPLLN SSSVGNLSCE PPRIRGAGTR ELELAIRITL
70 80 90 100 110 120
YAVIFLMSVG GNMLIIVVLG LSRRLRTVTN AFLLSLAVSD LLLAVACMPF TLLPNLMGTF
130 140 150 160 170 180
IFGTVICKAV SYLMGVSVSV STLSLVAIAL ERYSAICRPL QARVWQTRSH AARVIVATWL
190 200 210 220 230 240
LSGLLMVPYP VYTVVQPVGP RVLQCVHRWP SARVRQTWSV LLLLLLFFIP GVVMAVAYGL
250 260 270 280 290 300
ISRELYLGLR FDGDSDSDSQ SRVRNQGGLP GAVHQNGRCR PETGAVGEDS DGCYVQLPRS
310 320 330 340 350 360
RPALELTALT APGPGSGSRP TQAKLLAKKR VVRMLLVIVV LFFLCWLPVY SANTWRAFDG
370 380 390 400 410 420
PGAHRALSGA PISFIHLLSY ASACVNPLVY CFMHRRFRQA CLETCARCCP RPPRARPRAL
430 440
PDEDPPTPSI ASLSRLSYTT ISTLGPG