Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q7Z602

Entry ID Method Resolution Chain Position Source
AF-Q7Z602-F1 Predicted AlphaFoldDB

281 variants for Q7Z602

Variant ID(s) Position Change Description Diseaes Association Provenance
rs750102831
CA4221786
3 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1032909436
CA157554997
5 N>D No ClinGen
TOPMed
CA4221787
rs755641967
5 N>S No ClinGen
ExAC
gnomAD
rs199643208
CA4221789
6 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199643208
COSM746990
CA367277486
6 T>N lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1583584108
CA367277485
6 T>P No ClinGen
Ensembl
rs758984161
CA4221790
7 S>A No ClinGen
ExAC
gnomAD
rs377059932
CA4221791
7 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA367277500
rs1441329355
9 N>D No ClinGen
gnomAD
rs1251303605
CA367277509
10 S>F No ClinGen
TOPMed
rs370251580
CA4221792
10 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA157554998
rs767082752
11 S>P No ClinGen
gnomAD
rs775684518
CA4221797
13 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA4221796
rs141399721
13 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM601167
rs141399721
CA4221795
13 D>Y lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4221799
rs145307889
14 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145307889
CA157555000
14 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA157554999
rs969080271
14 P>T No ClinGen
TOPMed
CA4221800
rs774171280
16 V>A No ClinGen
ExAC
gnomAD
CA367277550
rs1250139040
17 T>I No ClinGen
gnomAD
TCGA novel 17 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1300743026
CA367277553
18 P>H No ClinGen
TOPMed
rs1300743026
CA367277555
18 P>L No ClinGen
TOPMed
CA4221801
rs761632116
18 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA4221803
rs750043890
19 H>R No ClinGen
ExAC
gnomAD
CA367277574
rs1193164216
21 I>T No ClinGen
gnomAD
rs925160389
CA157555001
22 S>N No ClinGen
Ensembl
rs144599078
CA157555002
26 I>V No ClinGen
ESP
CA157555004
rs981243681
28 L>I No ClinGen
TOPMed
gnomAD
rs758817530
CA4221808
29 I>M No ClinGen
ExAC
CA4221806
rs373988182
29 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765775402
CA4221805
29 I>V No ClinGen
ExAC
gnomAD
TCGA novel 30 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367277633
rs1301958927
31 G>R No ClinGen
TOPMed
gnomAD
rs1275107869
CA367277649
33 V>G No ClinGen
gnomAD
rs1368671907
CA367277651
34 G>R No ClinGen
gnomAD
CA367277666
COSM3394732
rs1293960204
36 I>T pancreas [Cosmic] No ClinGen
cosmic curated
gnomAD
rs867379731
CA157555006
37 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA367277681
rs1344895218
39 L>I No ClinGen
gnomAD
TCGA novel 40 F>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745990029
CA4221815
41 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1489889195
CA367277700
42 L>M No ClinGen
gnomAD
rs749335333
CA4221816
43 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA157555007
rs749335333
43 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA367277713
rs1247526767
44 K>R No ClinGen
gnomAD
CA367277730
rs1475243184
46 N>S No ClinGen
gnomAD
CA4221818
rs774302831
47 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA367277734
rs774302831
47 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA157555008
rs140146180
47 T>S No ClinGen
ESP
TOPMed
rs566037940
CA4221820
48 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761861224
CA4221819
48 R>W No ClinGen
ExAC
gnomAD
CA4221823
rs760399282
51 T>I No ClinGen
ExAC
gnomAD
COSM746989
rs760399282
CA4221822
51 T>N lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA4221824
rs753444243
52 T>I No ClinGen
ExAC
gnomAD
rs1051200252
CA157555010
52 T>P No ClinGen
TOPMed
gnomAD
CA367277765
rs1428259741
53 M>I No ClinGen
gnomAD
CA4221825
rs759017142
53 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA157555011
rs759017142
53 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA4221826
rs534808178
54 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs80037837
CA157555012
55 V>G No ClinGen
Ensembl
CA367277797
rs1562795129
58 L>* No ClinGen
Ensembl
CA367277810
rs1314970724
60 V>A No ClinGen
gnomAD
CA367277812
rs1230090119
61 V>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA367277822
rs1420449141
62 H>R No ClinGen
TOPMed
CA4221829
rs372117075
63 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4221831
rs750847818
64 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1010134580
CA157555013
66 L>M No ClinGen
TOPMed
gnomAD
rs780257890
CA4221833
68 T>A No ClinGen
ExAC
gnomAD
rs1473772428
CA367277865
69 V>G No ClinGen
TOPMed
gnomAD
rs571386238
CA4221836
70 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4221837
rs150971296
72 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
VAR_074185
rs772202718
CA4221838
COSM1089429
72 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
UniProt
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs772202718
CA157555014
72 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA367277894
rs1436295272
74 T>I No ClinGen
gnomAD
CA367277902
rs1438084491
75 Y>* No ClinGen
TOPMed
gnomAD
rs1339223098
CA367277899
75 Y>C No ClinGen
gnomAD
rs1339223098
CA367277900
75 Y>F No ClinGen
gnomAD
CA157555016
rs1034108600
78 K>Q No ClinGen
TOPMed
gnomAD
CA4221840
rs760487084
79 K>E No ClinGen
ExAC
rs1325096796
CA367277939
81 W>* No ClinGen
TOPMed
gnomAD
rs1232527888
CA367277951
82 M>I No ClinGen
TOPMed
rs1284834288
CA367277946
82 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4221841
rs574260060
85 L>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1562795340
CA367277973
86 P>S No ClinGen
Ensembl
CA157555019
COSM1549917
rs984533010
87 F>L lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA4221842
rs776299996
87 F>Y No ClinGen
ExAC
gnomAD
rs764774782
CA4221844
88 C>* No ClinGen
ExAC
TOPMed
gnomAD
CA4221843
rs759162458
88 C>S No ClinGen
ExAC
gnomAD
CA4221846
rs775048159
89 K>I No ClinGen
ExAC
TOPMed
gnomAD
CA4221845
rs775048159
89 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA4221847
rs767958768
90 F>L No ClinGen
ExAC
gnomAD
rs750936533
CA4221848
90 F>S No ClinGen
ExAC
gnomAD
CA4221849
rs756463577
91 V>M No ClinGen
ExAC
gnomAD
CA367278011
rs1412236123
92 S>I No ClinGen
gnomAD
rs754065932
CA4221851
93 A>T No ClinGen
ExAC
gnomAD
CA367278027
rs1350749422
94 M>I No ClinGen
TOPMed
CA4221853
rs779128214
97 I>N No ClinGen
ExAC
gnomAD
rs748296186
CA4221854
99 M>I No ClinGen
ExAC
gnomAD
CA367278073
rs1408097796
101 L>F No ClinGen
gnomAD
CA4221855
rs758564434
102 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4221857
rs746948867
103 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA4221858
rs770739044
103 F>Y No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 105 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776331619
CA4221860
106 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs934193947
CA157555022
106 Y>D No ClinGen
TOPMed
gnomAD
CA4221861
rs776331619
106 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs776331619
CA4221859
106 Y>S No ClinGen
ExAC
TOPMed
gnomAD
rs1436067548
CA367278107
107 V>M No ClinGen
gnomAD
CA367278124
rs763366923
109 I>M No ClinGen
gnomAD
TCGA novel 110 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762385575
CA4221864
114 Y>* No ClinGen
ExAC
gnomAD
CA4221863
rs775140156
114 Y>F No ClinGen
ExAC
rs1331271667
CA367278173
117 F>C No ClinGen
TOPMed
gnomAD
rs773657343
CA4221867
120 C>F No ClinGen
ExAC
gnomAD
CA4221868
rs761132797
122 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1173617666
CA367278207
122 D>N No ClinGen
gnomAD
CA4221869
rs766731087
123 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1309905555
CA367278227
125 E>* No ClinGen
gnomAD
rs371125432
CA4221871
127 Y>N No ClinGen
ExAC
gnomAD
rs138253244
CA4221873
129 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1402939826
CA367278267
130 L>P No ClinGen
TOPMed
rs746935561
CA4221876
131 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs778049306
CA4221875
131 H>Y No ClinGen
ExAC
gnomAD
rs143977202
CA4221878
133 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146912152
CA4221879
134 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs769585473
CA4221880
135 A>P No ClinGen
ExAC
gnomAD
CA367278299
rs1269042204
136 S>N No ClinGen
gnomAD
CA367278300
rs1269042204
136 S>T No ClinGen
gnomAD
TCGA novel 138 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 138 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4221882
rs775086717
139 M>R No ClinGen
ExAC
TOPMed
gnomAD
CA4221883
rs150151168
141 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1583585484
CA367278347
143 V>G No ClinGen
Ensembl
rs768128761
CA4221884
143 V>M No ClinGen
ExAC
gnomAD
rs988047280
CA157555027
144 I>N No ClinGen
Ensembl
CA367278350
rs1583585500
144 I>V No ClinGen
Ensembl
TCGA novel 146 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4221885
rs773770767
146 I>T No ClinGen
ExAC
gnomAD
rs761236497
CA4221886
147 V>L No ClinGen
ExAC
gnomAD
rs761236497
CA367278367
147 V>M No ClinGen
ExAC
gnomAD
CA157555029
rs965201686
148 V>E No ClinGen
gnomAD
rs1407002835
CA367278378
149 P>L No ClinGen
gnomAD
CA4221888
rs545002848
COSM70948
149 P>S ovary [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
rs759751488
CA4221889
COSM3768356
151 V>A liver [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1230472469
CA367278386
151 V>I No ClinGen
TOPMed
gnomAD
CA367278387
rs1230472469
151 V>L No ClinGen
TOPMed
gnomAD
CA367278402
rs1358038827
153 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA367278404
rs374675345
154 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4221891
rs374675345
154 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4221890
rs147447409
154 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751648980
CA4221894
155 Y>* No ClinGen
ExAC
gnomAD
CA4221893
rs764266586
155 Y>C No ClinGen
ExAC
gnomAD
rs1463825410
CA367278419
157 I>V No ClinGen
TOPMed
gnomAD
CA4221895
rs751786639
160 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA367278460
rs1249174846
162 N>S No ClinGen
TOPMed
gnomAD
CA4221897
rs780929544
163 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 164 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367278477
rs201057852
164 E>D No ClinGen
TOPMed
gnomAD
CA4221899
rs750408189
165 H>Q No ClinGen
ExAC
gnomAD
CA367278491
rs1386099327
166 C>F No ClinGen
gnomAD
CA367278489
rs1386099327
166 C>Y No ClinGen
gnomAD
CA367278495
rs1437029965
167 F>L No ClinGen
TOPMed
gnomAD
TCGA novel 167 F>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs148535598
CA4221901
168 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1048405800
CA157555031
172 E>D No ClinGen
Ensembl
rs373227698
CA4221902
173 L>F No ClinGen
ESP
ExAC
gnomAD
CA4221903
rs768359708
175 Y>H No ClinGen
ExAC
gnomAD
TCGA novel 178 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778469645
CA4221904
180 I>T No ClinGen
ExAC
gnomAD
rs747553664
CA4221905
182 N>I No ClinGen
ExAC
gnomAD
rs747553664
CA367278603
182 N>S No ClinGen
ExAC
gnomAD
rs1554347862
CA4221908
184 M>V No ClinGen
Ensembl
rs770254655
CA4221911
185 I>T No ClinGen
ExAC
gnomAD
rs760141591
CA4221910
185 I>V No ClinGen
ExAC
gnomAD
CA4221914
rs150636183
186 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4221913
rs763255565
186 V>F No ClinGen
ExAC
gnomAD
rs1459085690
CA367278633
187 I>F No ClinGen
gnomAD
CA367278636
rs1159593782
187 I>T No ClinGen
gnomAD
TCGA novel 188 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751814120
CA4221915
190 I>M No ClinGen
ExAC
gnomAD
rs1005996976
CA157555032
190 I>T No ClinGen
TOPMed
gnomAD
CA4221916
rs761762672
191 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs61729276
CA157555033
191 A>T No ClinGen
Ensembl
CA4221917
rs139160883
192 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750308560
CA4221918
193 A>S No ClinGen
ExAC
gnomAD
CA4221919
rs756081456
193 A>V No ClinGen
ExAC
gnomAD
rs1583585950
CA367278677
195 I>V No ClinGen
Ensembl
rs144094226
CA4221920
196 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367278693
rs1208589360
197 L>F No ClinGen
gnomAD
CA4221922
rs754777360
198 V>D No ClinGen
ExAC
gnomAD
CA4221921
rs753686419
198 V>I No ClinGen
ExAC
gnomAD
rs1204482242
CA367278699
199 F>L No ClinGen
gnomAD
CA157555035
rs1057377290
199 F>S No ClinGen
gnomAD
CA4221923
rs778362767
201 V>I No ClinGen
ExAC
gnomAD
CA4221925
rs146529395
204 I>F No ClinGen
ESP
TOPMed
rs146529395
CA4221926
204 I>L No ClinGen
ESP
TOPMed
CA4221927
rs146529395
204 I>V No ClinGen
ESP
TOPMed
CA367278742
rs1562796396
205 M>K No ClinGen
Ensembl
CA4221930
rs777390147
209 Q>* No ClinGen
ExAC
gnomAD
CA4221932
rs375407880
212 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs375407880
CA367278789
212 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369757172
CA4221934
COSM1450579
212 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs369757172
CA4221933
212 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4221935
rs769100435
213 H>Q No ClinGen
ExAC
gnomAD
CA367278816
rs1282276615
217 S>A No ClinGen
TOPMed
gnomAD
CA367278817
rs1282276615
217 S>T No ClinGen
TOPMed
gnomAD
rs767461242
CA157555037
219 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA4221938
rs767461242
219 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA367278836
rs1361986821
220 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA367278841
rs1217808086
220 E>V No ClinGen
gnomAD
COSM2157397
CA367278858
rs1158816682
222 W>* Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs143169383
CA4221939
223 A>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA367278861
rs1303910982
223 A>T No ClinGen
gnomAD
rs373247764
CA4221940
COSM746988
224 Q>* lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs145445554
CA157555038
224 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 226 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 227 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA157555040
rs371678132
230 F>V No ClinGen
Ensembl
rs148854754
CA367278916
231 I>K No ClinGen
ESP
ExAC
TOPMed
rs148854754
CA4221944
231 I>T No ClinGen
ESP
ExAC
TOPMed
rs761658492 231 I>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1246324219
CA367278925
233 V>I No ClinGen
gnomAD
rs371535293
CA4221945
235 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4221946
rs752268545
236 V>A No ClinGen
ExAC
gnomAD
rs1562796654
CA367278943
236 V>I No ClinGen
Ensembl
CA4221947
rs758137642
241 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA367278993
rs1166646769
243 F>V No ClinGen
gnomAD
CA4221949
rs746461138
245 R>G No ClinGen
ExAC
gnomAD
TCGA novel 245 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1322358190
CA367279022
247 Y>D No ClinGen
gnomAD
CA367279031
rs1347720912
248 Y>S No ClinGen
gnomAD
CA4221950
rs756832913
250 N>D No ClinGen
ExAC
gnomAD
CA4221953
rs768882527
251 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA4221952
rs749839455
251 V>L No ClinGen
ExAC
gnomAD
rs117528446
CA4221954
253 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 255 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1229195209
CA367279083
256 N>S No ClinGen
gnomAD
TCGA novel 257 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs376076843
CA4221956
258 C>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376076843
CA367279096
258 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA157555042
rs952828044
260 S>G No ClinGen
Ensembl
TCGA novel 260 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4221958
rs760678080
262 V>D No ClinGen
ExAC
gnomAD
TCGA novel 264 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM70949
rs766476489
CA4221959
265 Y>C ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA367279158
rs759565313
267 E>* No ClinGen
ExAC
gnomAD
COSM1089434
CA4221961
rs759565313
267 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA367279167
rs1341857408
268 I>T No ClinGen
TOPMed
CA4221962
rs190677168
268 I>V No ClinGen
1000Genomes
TOPMed
gnomAD
TCGA novel 270 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1382417669
CA367279194
272 V>L No ClinGen
TOPMed
TCGA novel 273 T>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4221965
rs752596433
274 A>T No ClinGen
ExAC
gnomAD
CA367279211
rs1411064681
275 I>V No ClinGen
TOPMed
gnomAD
rs1406678518
CA367279219
276 S>C No ClinGen
gnomAD
CA4221966
rs770851503
276 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs778807658
CA4221967
278 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1199887479
CA367279246
279 D>E No ClinGen
Ensembl
rs1478817081
CA367279280
284 V>A No ClinGen
TOPMed
TCGA novel 284 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4221969
rs756782086
285 F>C No ClinGen
ExAC
gnomAD
rs780900599
CA4221970
286 G>A No ClinGen
ExAC
gnomAD
CA157555044
rs928646174
288 S>G No ClinGen
TOPMed
gnomAD
rs749784262
CA4221971
288 S>N No ClinGen
ExAC
gnomAD
rs755571982
CA4221972
289 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs938639708
CA157555045
289 H>Y No ClinGen
TOPMed
gnomAD
rs1290886369
CA367279341
293 Q>R No ClinGen
TOPMed
gnomAD
rs748484853
CA367279354
295 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs748484853
CA4221974
295 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA4221975
rs772324619
296 I>T No ClinGen
ExAC
gnomAD
rs1269855834
CA367279370
297 G>V No ClinGen
gnomAD
rs1220976253
CA367279372
298 L>I No ClinGen
TOPMed
rs777930630
CA4221976
298 L>S No ClinGen
ExAC
gnomAD
TCGA novel 299 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200611102
CA4221978
300 N>D No ClinGen
1000Genomes
ExAC
gnomAD
rs200611102
CA367279387
300 N>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs776730509
CA4221979
302 V>F No ClinGen
ExAC
rs76924160
CA4221981
305 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM70950
CA4221983
rs775296772
305 R>H ovary oesophagus large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA4221982
rs775296772
305 R>L No ClinGen
ExAC
TOPMed
gnomAD
COSM1450584
rs76924160
CA367279421
305 R>S large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD

No associated diseases with Q7Z602

1 regional properties for Q7Z602

Type Name Position InterPro Accession
domain GPCR, rhodopsin-like, 7TM 33 - 283 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.

1 GO annotations of molecular function

Name Definition
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.

No GO annotations of biological process

Name Definition
No GO annotations for biological process

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MPGHNTSRNS SCDPIVTPHL ISLYFIVLIG GLVGVISILF LLVKMNTRSV TTMAVINLVV
70 80 90 100 110 120
VHSVFLLTVP FRLTYLIKKT WMFGLPFCKF VSAMLHIHMY LTFLFYVVIL VTRYLIFFKC
130 140 150 160 170 180
KDKVEFYRKL HAVAASAGMW TLVIVIVVPL VVSRYGIHEE YNEEHCFKFH KELAYTYVKI
190 200 210 220 230 240
INYMIVIFVI AVAVILLVFQ VFIIMLMVQK LRHSLLSHQE FWAQLKNLFF IGVILVCFLP
250 260 270 280 290 300
YQFFRIYYLN VVTHSNACNS KVAFYNEIFL SVTAISCYDL LLFVFGGSHW FKQKIIGLWN
CVLCR