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 Q96JF0

Entry ID Method Resolution Chain Position Source
AF-Q96JF0-F1 Predicted AlphaFoldDB

536 variants for Q96JF0

Variant ID(s) Position Change Description Diseaes Association Provenance
CA348112327
rs1161980629
4 H>L No ClinGen
TOPMed
gnomAD
rs375816524
CA53860316
4 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA348112330
rs1341113854
4 H>Y No ClinGen
TOPMed
CA348112324
rs1158339320
5 L>V No ClinGen
TOPMed
gnomAD
rs1573262067
CA348112299
8 W>* No ClinGen
Ensembl
CA348112295
rs1251606516
8 W>C No ClinGen
TOPMed
CA53860315
rs911490484
9 R>G No ClinGen
TOPMed
gnomAD
CA348112288
rs1250388654
9 R>S No ClinGen
gnomAD
CA348112277
rs867465675
11 R>L No ClinGen
TOPMed
rs867465675
CA53860314
COSM164617
11 R>Q Variant assessed as Somatic; 0.0 impact. skin endometrium breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs985603049
CA53860313
12 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs952861175
CA53860312
14 F>L No ClinGen
gnomAD
CA348112235
rs749318938
17 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA53860310
rs1027038630
17 F>L No ClinGen
Ensembl
COSM331245
CA1817638
rs756320214
18 A>S lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
COSM3390846
rs756320214
COSM84620
CA1817637
18 A>T pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA348112231
rs1558702853
18 A>V No ClinGen
Ensembl
CA348112222
rs1240125374
19 W>* No ClinGen
gnomAD
CA1817633
rs757601261
22 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs1243788826
CA348112197
23 F>L No ClinGen
gnomAD
CA348112191
rs1335180034
24 L>F No ClinGen
gnomAD
CA1817632
rs752050814
24 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1397972342
CA348112189
25 L>V No ClinGen
TOPMed
gnomAD
CA348112170
rs1297296614
28 I>V No ClinGen
gnomAD
rs118018738
CA53860309
29 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1817631
rs118018738
29 Y>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1817630
rs138857139
30 F>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs62155507
CA1817629
30 F>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1817627
rs760357607
31 T>A No ClinGen
ExAC
gnomAD
rs771899592
CA1817625
32 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs761755100
CA1817624
33 S>N No ClinGen
ExAC
gnomAD
rs146572697
CA1817623
33 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA53860307
rs893646973
37 E>A No ClinGen
gnomAD
rs893646973
CA348112110
37 E>G No ClinGen
gnomAD
rs371811755
CA1817620
39 V>I No ClinGen
ESP
ExAC
gnomAD
rs769811552
CA1817619
40 P>R No ClinGen
ExAC
gnomAD
TCGA novel 40 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 41 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1277334297
CA348112084
41 S>R No ClinGen
gnomAD
rs746070116
CA1817618
42 S>C No ClinGen
ExAC
gnomAD
rs1362202326
CA348112077
43 L>I No ClinGen
gnomAD
CA1817617
rs781329223
43 L>R No ClinGen
ExAC
gnomAD
CA348112069
rs1390891314
44 S>Y No ClinGen
gnomAD
rs1422391663
CA348112059
45 F>L No ClinGen
gnomAD
rs1474242668
CA348112065
45 F>L No ClinGen
gnomAD
CA348112044
rs1424082837
48 T>A No ClinGen
TOPMed
CA53860306
rs916986264
50 R>S No ClinGen
TOPMed
gnomAD
rs1451486411
CA348112026
51 L>F No ClinGen
gnomAD
rs145721349
CA1817612
52 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372148383
CA1817610
COSM569122
53 P>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750074911
CA348112011
54 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs750074911
CA1817609
54 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA1817608
rs201439330
55 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1435703065
CA348112002
55 Q>R No ClinGen
gnomAD
CA348111994
rs1324964819
56 G>V No ClinGen
gnomAD
CA348111987
rs1398907540
57 K>N No ClinGen
gnomAD
CA348111993
rs1558702328
57 K>Q No ClinGen
Ensembl
rs1293048731
CA348111981
58 Q>R No ClinGen
TOPMed
rs761558561
CA1817607
59 R>P No ClinGen
ExAC
gnomAD
rs761558561
CA348111975
59 R>Q No ClinGen
ExAC
gnomAD
rs1171034466
CA348111976
59 R>W No ClinGen
gnomAD
CA348111965
rs1483884374
61 I>F No ClinGen
Ensembl
rs1483884374
CA348111966
61 I>V No ClinGen
Ensembl
rs774244072
CA348111960
62 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA1817606
rs774244072
62 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA1817605
rs762960856
64 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs762960856
CA348111946
64 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs762960856
CA1817604
64 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs775329379
CA1817603
65 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA53860305
rs368418036
66 H>R No ClinGen
ESP
TOPMed
gnomAD
rs943721547
CA53860304
67 E>* No ClinGen
Ensembl
rs781338462
COSM3379726
COSM3379727
CA1817601
70 P>L Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1817600
rs781338462
70 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1237609883
CA348111906
71 P>A No ClinGen
TOPMed
gnomAD
rs978633880
CA53860303
72 G>E No ClinGen
TOPMed
rs1261057134
CA348111893
73 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1218362810
CA348111885
75 D>N No ClinGen
gnomAD
rs771103475
CA1817598
76 A>P No ClinGen
ExAC
gnomAD
CA53860302
rs911438308
76 A>V No ClinGen
Ensembl
rs778092767
CA1817596
COSM1526967
77 R>C lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
COSM3406755
CA348111870
rs758806051
COSM3406754
77 R>H Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758806051
CA1817595
77 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs529061058
CA1817594
79 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
COSM84619
CA1817593
rs562042019
79 A>V Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs755520550
CA1817592
80 L>P No ClinGen
ExAC
gnomAD
CA1817589
rs756916800
82 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1817590
rs756916800
82 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA1817588
rs751305558
82 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 82 R>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs564025581
CA348111842
83 A>D No ClinGen
1000Genomes
TOPMed
gnomAD
CA53860301
rs564025581
83 A>G No ClinGen
1000Genomes
TOPMed
gnomAD
rs762905808
CA1817586
83 A>T No ClinGen
ExAC
gnomAD
CA348111840
rs1183264090
84 H>N No ClinGen
TOPMed
gnomAD
CA348111829
rs1209670004
85 P>Q No ClinGen
gnomAD
CA348111830
rs1235891104
85 P>S No ClinGen
gnomAD
rs1222025531
CA348111803
89 F>C No ClinGen
gnomAD
rs1264064249
CA348111799
90 H>D No ClinGen
gnomAD
rs80079355
CA1817581
91 A>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1817580
rs80079355
COSM1564874
91 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs747205074
CA1817579
92 G>A No ClinGen
ExAC
gnomAD
rs974754581
CA53860300
92 G>R No ClinGen
TOPMed
gnomAD
TCGA novel 93 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA53860299
rs966470817
93 P>T No ClinGen
TOPMed
gnomAD
rs1360160407
CA348111775
94 G>A No ClinGen
gnomAD
rs1360160407
CA348111776
94 G>E No ClinGen
gnomAD
CA53860298
rs920131957
95 D>N No ClinGen
TOPMed
gnomAD
rs920131957
CA348111772
95 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs773493469
CA1817578
96 L>M No ClinGen
ExAC
gnomAD
rs1352697383
CA348111760
97 Q>* No ClinGen
TOPMed
rs779337292
CA1817575
99 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA1817576
rs748401765
99 W>L No ClinGen
ExAC
gnomAD
TCGA novel 103 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1181542178
CA348111714
103 Q>L No ClinGen
gnomAD
CA53860295
rs950847770
104 D>E No ClinGen
TOPMed
gnomAD
CA348111706
rs1473218974
104 D>V No ClinGen
gnomAD
rs1314073215
CA348111702
105 G>R No ClinGen
gnomAD
rs749819990
CA1817573
COSM1266854
107 E>K kidney oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA1817572
rs73949785
109 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1558701728
CA348111670
109 K>N No ClinGen
Ensembl
rs200701778
CA1817571
110 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 111 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1817570
rs761887652
112 F>V No ClinGen
ExAC
gnomAD
TCGA novel 113 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1327855726 113 S>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1319444324
CA348111646
113 S>T No ClinGen
gnomAD
CA1817569
rs202001830
114 S>F No ClinGen
1000Genomes
ExAC
gnomAD
CA1817568
COSM3406752
rs377166692
COSM3406751
116 V>M Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1181856443
CA348111616
118 R>G No ClinGen
TOPMed
CA53860293
rs928722382
118 R>K No ClinGen
gnomAD
rs752395579
CA1817567
120 S>C No ClinGen
ExAC
gnomAD
CA348111591
rs1573260197
121 Q>H No ClinGen
Ensembl
rs116003024
CA1817566
122 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1817565
rs116003024
122 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA53860291
rs866450627
123 A>T No ClinGen
gnomAD
TCGA novel 124 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs906132688
CA53860290
126 P>L No ClinGen
TOPMed
gnomAD
rs906132688
CA348111559
126 P>Q No ClinGen
TOPMed
gnomAD
CA348111557
rs1399789087
127 E>K No ClinGen
TOPMed
rs1422029942
COSM140420
CA348111549
128 D>N Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA1817564
rs776674229
131 Y>C No ClinGen
ExAC
gnomAD
rs1328977088
CA348111512
CA348111513
132 F>L No ClinGen
TOPMed
CA1817563
rs766445580
132 F>S No ClinGen
ExAC
gnomAD
rs553645667
CA1817562
135 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA348111492
rs1191758598
136 G>C No ClinGen
gnomAD
CA348111468
rs199962702
139 G>A No ClinGen
gnomAD
rs199962702
CA53860287
139 G>E No ClinGen
gnomAD
TCGA novel 139 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1442834072
CA348111470
139 G>W No ClinGen
TOPMed
rs773296782
CA1817561
140 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs1195819265
CA348111457
141 H>Y No ClinGen
gnomAD
CA1817560
rs772211728
142 S>N No ClinGen
ExAC
gnomAD
CA348111443
rs1376317618
143 H>N No ClinGen
TOPMed
rs867733061
CA53860286
145 Q>* No ClinGen
Ensembl
CA53860285
rs568673606
145 Q>P No ClinGen
gnomAD
CA53860284
rs142700199
147 T>A No ClinGen
Ensembl
TCGA novel 147 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1817556
rs141100958
150 F>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs1402428532
CA348111389
151 P>L Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA53860283
rs201546993
151 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA1817554
rs770549355
153 P>A No ClinGen
ExAC
gnomAD
CA1817553
rs746454620
153 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs746454620
CA348111379
153 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1465277097
CA348111377
154 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1817550
VAR_038046
rs3796110
CA1817552
154 G>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA1817551
rs3796110
154 G>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs570828111
CA1817549
155 E>A No ClinGen
1000Genomes
ExAC
gnomAD
CA348111359
rs1172503683
157 G>D No ClinGen
gnomAD
TCGA novel 157 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 158 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754872937
CA348111347
159 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA1817548
rs754872937
159 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs754872937
CA348111348
159 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1260390177
COSM1266856
CA348111349
159 R>W oesophagus [Cosmic] No ClinGen
cosmic curated
TOPMed
CA1817546
rs766249358
160 E>G No ClinGen
ExAC
gnomAD
CA348111344
rs1489216384
160 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA348111330
rs1318116034
162 A>G No ClinGen
gnomAD
CA1817545
rs760608485
162 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs1188693156
CA348111315
164 P>L No ClinGen
TOPMed
CA348111306
rs1573259525
166 A>S No ClinGen
Ensembl
TCGA novel 167 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1301261571
CA348111290
168 V>D No ClinGen
gnomAD
CA348111292
rs1310790544
168 V>F No ClinGen
gnomAD
CA348111286
rs1476927983
169 Q>* No ClinGen
TOPMed
CA1817544
rs750460237
169 Q>R No ClinGen
ExAC
gnomAD
rs1558701122
CA348111281
170 R>G No ClinGen
Ensembl
TCGA novel 170 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348111275
rs1373349831
170 R>S No ClinGen
gnomAD
CA1817542
rs76671923
172 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs767653102
COSM369298
CA1817543
172 R>W lung large_intestine meninges [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA348111264
rs1333135819
173 V>M No ClinGen
gnomAD
rs768898527
CA1817539
174 K>N No ClinGen
ExAC
CA1817538
rs763431064
176 R>G No ClinGen
ExAC
gnomAD
rs537038435
CA1817537
176 R>K No ClinGen
1000Genomes
ExAC
gnomAD
rs770385803
CA348111232
CA1817536
177 H>Q No ClinGen
ExAC
gnomAD
rs771652703
CA1817534
178 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs771652703
CA1817533
178 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs746401401
CA1817535
178 R>W No ClinGen
ExAC
gnomAD
rs138095673
CA1817532
179 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 179 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1817530
rs754602069
180 Q>H No ClinGen
ExAC
gnomAD
CA1817531
rs778688597
180 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA348111220
rs1290889701
180 Q>R No ClinGen
gnomAD
TCGA novel 182 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1357307343
CA348111204
182 R>S No ClinGen
TOPMed
rs369563349
CA53860279
183 S>T No ClinGen
ESP
TOPMed
rs185101731
CA1817529
184 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs779852859
CA1817528
185 V>G No ClinGen
ExAC
gnomAD
rs889490672
CA53860278
185 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 187 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750405152
CA1817526
187 E>K No ClinGen
ExAC
gnomAD
rs1558700868
CA348111165
188 E>D No ClinGen
Ensembl
rs762019398
CA1817524
189 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA348111159
rs762019398
189 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs142741001
CA1817523
190 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1309510672
CA348111158
190 D>N No ClinGen
gnomAD
CA348111156
rs1309510672
190 D>Y No ClinGen
gnomAD
CA348111145
CA1817521
rs146192357
191 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1401296066
CA348111150
191 D>H No ClinGen
gnomAD
rs1401296066
CA348111149
191 D>Y No ClinGen
gnomAD
CA1817520
rs143354621
192 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs770332400
CA348111134
193 D>E No ClinGen
ExAC
gnomAD
rs1486908982
CA348111136
193 D>G No ClinGen
TOPMed
CA53860277
rs1037175427
193 D>N No ClinGen
Ensembl
CA53860275
rs1027754263
196 Y>* No ClinGen
TOPMed
rs973523102
CA53860274
197 S>A No ClinGen
TOPMed
CA348111110
rs528424981
197 S>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs528424981
CA1817516
197 S>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs747638518
CA1817513
199 M>I No ClinGen
ExAC
gnomAD
CA348111100
rs1422827075
199 M>T No ClinGen
gnomAD
rs771474102
CA1817515
199 M>V No ClinGen
ExAC
COSM569129
CA348111093
rs1486948627
200 S>F lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA1817511
rs768311561
200 S>P No ClinGen
ExAC
gnomAD
rs768311561
CA1817512
200 S>T No ClinGen
ExAC
gnomAD
CA1817510
rs748959361
201 R>G No ClinGen
ExAC
gnomAD
rs755939257
CA1817508
202 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA348111082
rs755939257
202 A>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 204 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1242916612
CA348111069
204 L>Q No ClinGen
gnomAD
CA348111060
rs1416447332
206 R>G No ClinGen
gnomAD
rs1313466416
CA348111058
206 R>Q No ClinGen
TOPMed
rs1416447332
CA348111059
206 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1338138652
CA348111041
208 W>C No ClinGen
gnomAD
CA348111035
rs757152539
209 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA53860272
rs535316547
209 K>R No ClinGen
gnomAD
CA53860271
rs371878571
210 G>A No ClinGen
ESP
CA348111031
rs1319748824
210 G>W No ClinGen
TOPMed
rs1386522472
CA348111020
212 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs751589118
CA1817504
213 S>T No ClinGen
ExAC
gnomAD
rs1573258605
CA348111008
214 S>P No ClinGen
Ensembl
CA1817502
rs753008259
216 M>R No ClinGen
ExAC
gnomAD
CA1817501
rs753008259
216 M>T No ClinGen
ExAC
gnomAD
TCGA novel 216 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348110987
rs1573258571
217 L>V No ClinGen
Ensembl
rs746949644
CA1817500
218 N>T No ClinGen
ExAC
gnomAD
CA348110971
rs1261444571
COSM390571
219 P>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA348110968
COSM295846
rs1193641422
220 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1488876821
CA348110967
220 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1488876821
CA348110965
220 R>L No ClinGen
TOPMed
gnomAD
rs957977016
CA53860268
223 K>R No ClinGen
TOPMed
rs1266325444
CA348110941
224 A>V No ClinGen
gnomAD
rs776878232
CA1817498
228 Y>N No ClinGen
ExAC
gnomAD
rs1573258434
CA348110910
228 Y>S No ClinGen
Ensembl
rs1573258407
CA348110902
229 L>R No ClinGen
Ensembl
rs1277277487
CA348110905
229 L>V No ClinGen
gnomAD
rs141122114
CA1817497
230 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA348110901
rs1573258385
230 T>P No ClinGen
Ensembl
rs369427384
CA348110896
231 A>S No ClinGen
ESP
gnomAD
rs369427384
CA53860266
231 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
gnomAD
rs1390823193
CA348110889
232 N>Y No ClinGen
gnomAD
rs773859154
CA1817495
233 K>N No ClinGen
ExAC
gnomAD
rs1166420396
CA348110870
234 H>Q No ClinGen
TOPMed
gnomAD
CA1817492
rs775186979
235 G>E No ClinGen
ExAC
gnomAD
CA1817493
CA1817494
rs376167669
235 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs530496847
CA1817491
COSM1291277
237 R>C Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA348110858
rs530496847
237 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA348110856
rs1430200985
237 R>P No ClinGen
gnomAD
rs530496847
CA348110859
237 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA348110844
rs1197359205
239 R>C No ClinGen
gnomAD
CA1817490
COSM1004960
rs371609380
239 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs746969361
CA1817488
COSM1398632
CA348110841
240 G>R Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
NCI-TCGA
rs746969361
CA1817487
240 G>W No ClinGen
ExAC
gnomAD
CA1817486
rs777878110
241 K>Q No ClinGen
ExAC
gnomAD
CA1817485
rs758618457
242 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA348110829
rs758618457
242 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs371937457
CA53860265
COSM404715
242 R>W lung [Cosmic] No ClinGen
cosmic curated
TOPMed
rs765501707
CA1817483
243 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA53860264
rs1008022174
243 E>V No ClinGen
TOPMed
gnomAD
rs1573257977
CA348110814
TCGA novel
245 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
Ensembl
CA348110805
rs1309029685
246 L>R No ClinGen
TOPMed
rs911864717
CA53860263
248 R>K No ClinGen
TOPMed
rs1444167346
CA348110788
249 A>T No ClinGen
gnomAD
CA1817481
rs374874543
252 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 253 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs929332547
CA53860261
253 C>G No ClinGen
TOPMed
gnomAD
CA348110749
rs1410941664
255 L>Q No ClinGen
gnomAD
CA348110745
rs1171387380
256 R>Q No ClinGen
TOPMed
gnomAD
rs1422051543
CA348110746
256 R>W No ClinGen
gnomAD
CA1817480
rs766673161
257 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA53860260
rs898721265
257 S>R No ClinGen
Ensembl
CA348110735
rs1395800929
258 R>C No ClinGen
gnomAD
rs1456621255
CA348110722
260 R>C No ClinGen
gnomAD
CA348110723
rs1456621255
260 R>G No ClinGen
gnomAD
rs1237864919
CA348110719
260 R>H No ClinGen
gnomAD
CA348110720
rs1237864919
260 R>P No ClinGen
gnomAD
CA53860259
rs1037689676
CA348110717
261 V>L No ClinGen
TOPMed
gnomAD
CA348110718
rs1037689676
261 V>M No ClinGen
TOPMed
gnomAD
COSM3701912
CA348110703
rs1345582889
COSM3701911
263 T>M Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA53860258
rs940168599
264 L>M No ClinGen
Ensembl
rs773627637
CA1817478
264 L>P No ClinGen
ExAC
gnomAD
rs763586738
CA53860257
266 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs763586738
CA1817477
266 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1443893427
CA348110679
268 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs769367829
CA1817474
272 S>F No ClinGen
ExAC
gnomAD
CA53860256
rs1023555976
273 A>T No ClinGen
TOPMed
CA348110644
rs1176063528
273 A>V No ClinGen
gnomAD
CA348110643
rs1407134914
274 L>M No ClinGen
TOPMed
gnomAD
CA348110619
rs1471254288
277 R>L No ClinGen
TOPMed
gnomAD
rs1178047224
COSM3390841
COSM3390840
CA348110622
277 R>W pancreas [Cosmic] No ClinGen
cosmic curated
gnomAD
CA1817473
rs759140364
278 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA348110614
rs759140364
278 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA1817472
rs776466501
CA53860255
280 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1485968518
CA348110601
281 P>H No ClinGen
gnomAD
rs1485968518
CA348110599
281 P>L No ClinGen
gnomAD
rs770673105
CA1817471
282 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs770673105
CA348110598
282 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA348110594
rs1424535500
282 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1817469
rs777630203
283 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA53860253
rs990080002
284 P>H No ClinGen
Ensembl
CA348110588
rs1275146606
284 P>T No ClinGen
TOPMed
rs1225144673
CA348110575
286 S>N No ClinGen
gnomAD
rs1225144673
CA348110574
286 S>T No ClinGen
gnomAD
rs1376433010
CA348110568
287 Q>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs772153522
CA1817467
287 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA348110552
rs139995152
CA53860252
289 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs755206333
CA348110548
290 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs755206333
CA1817464
290 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs754052250
COSM3708793
CA1817463
COSM88681
291 R>C ovary liver [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs754052250
CA348110546
COSM1526969
291 R>S lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA1817461
rs577158909
292 G>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs780431339
CA1817462
292 G>S No ClinGen
ExAC
gnomAD
rs1021383351
CA348110536
293 L>M No ClinGen
TOPMed
gnomAD
TCGA novel 293 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348110528
rs1181487739
294 R>H No ClinGen
gnomAD
TCGA novel 295 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1475433439
CA348110521
295 S>N No ClinGen
gnomAD
CA1817460
rs750925772
295 S>R No ClinGen
ExAC
gnomAD
TCGA novel 297 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762309942
CA1817458
299 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA348110484
rs1242196059
301 S>P No ClinGen
gnomAD
CA1817456
rs764747941
304 A>S No ClinGen
ExAC
gnomAD
CA348110454
rs1475327833
306 L>V No ClinGen
TOPMed
CA53860249
rs899630822
307 N>S No ClinGen
TOPMed
gnomAD
rs1353096914
CA348110424
310 L>F No ClinGen
TOPMed
CA348110413
rs1402055837
312 E>G No ClinGen
TOPMed
CA348110417
rs1299127472
312 E>K No ClinGen
TOPMed
rs1335982644
CA348110408
313 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA348110395
rs1295449479
314 I>M No ClinGen
gnomAD
rs1573256945
CA348110400
314 I>V No ClinGen
Ensembl
rs776213215
CA1817454
315 D>N No ClinGen
ExAC
gnomAD
CA348110355
rs1268344857
318 D>E No ClinGen
TOPMed
TCGA novel 318 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs139517922
CA1817436
319 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773096997
CA1817434
321 L>W No ClinGen
ExAC
gnomAD
TCGA novel 322 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348110335
rs1329544630
322 R>K No ClinGen
gnomAD
CA1817433
rs767472492
323 F>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 325 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1817432
rs761807841
327 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA53859187
rs931844470
328 T>A No ClinGen
TOPMed
CA53859186
rs774493419
329 R>C No ClinGen
ExAC
gnomAD
rs768765330
CA1817430
329 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA1817431
rs774493419
329 R>S No ClinGen
ExAC
gnomAD
CA348110285
rs1193642284
330 G>V No ClinGen
gnomAD
CA1817429
rs749266455
332 E>G No ClinGen
ExAC
gnomAD
CA348110275
rs1473596085
332 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs267598827
CA53859185
334 D>N No ClinGen
TOPMed
COSM1004959
CA348110260
rs267598827
334 D>Y Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA1817428
rs775642020
335 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA348110254
rs1460038786
335 V>I No ClinGen
TOPMed
CA1817425
rs141891229
337 N>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781512929
CA1817424
337 N>I No ClinGen
ExAC
gnomAD
CA53859184
rs1017818811
338 K>E No ClinGen
TOPMed
gnomAD
CA1817423
rs757686327
340 T>I No ClinGen
ExAC
gnomAD
VAR_038047
rs12615112
CA1817422
341 I>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs533150647
COSM3406748
COSM267515
CA1817421
342 R>C large_intestine central_nervous_system Variant assessed as Somatic; 4.622e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3390839
COSM1227680
rs758951633
CA1817420
342 R>H pancreas large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
TCGA novel 344 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs138821621
COSM200548
CA1817418
346 S>L Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
gnomAD
rs1486901516
CA348110153
349 L>P No ClinGen
gnomAD
rs267598826
CA53859050
350 T>A No ClinGen
Ensembl
CA348110139
rs1261164092
351 N>K No ClinGen
gnomAD
rs1573236579
CA348110141
351 N>T No ClinGen
Ensembl
CA1817391
rs752719123
353 S>R No ClinGen
ExAC
gnomAD
rs368477217
CA1817390
357 I>T No ClinGen
ExAC
gnomAD
TCGA novel 358 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA53859048
rs141033323
359 S>N No ClinGen
ESP
TOPMed
rs759555817
CA1817389
359 S>R No ClinGen
ExAC
gnomAD
TCGA novel 364 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM3379725
CA1817387
COSM3379724
rs371333085
365 V>I pancreas [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
TCGA novel 367 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348109995
rs1382339735
COSM1690862
372 P>S skin [Cosmic] No ClinGen
cosmic curated
gnomAD
CA53859046
rs1012402259
376 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs772530808
CA1817384
376 S>P No ClinGen
ExAC
TOPMed
gnomAD
COSM2981777
COSM3772391
CA1817382
rs779528340
377 A>T pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1476485529
CA348109963
377 A>V No ClinGen
gnomAD
rs1558690122
CA348109947
380 N>H No ClinGen
Ensembl
rs745306878
CA1817380
380 N>S No ClinGen
ExAC
gnomAD
rs1426270172
CA348109919
382 W>* No ClinGen
TOPMed
rs1474174088
CA348109895
385 K>I No ClinGen
gnomAD
CA348109887
rs1399324772
386 P>L Variant assessed as Somatic; 4.877e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1261813632 386 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1411040733
COSM247610
CA348109892
386 P>T prostate [Cosmic] No ClinGen
cosmic curated
gnomAD
CA348109886
rs1157395736
387 D>N No ClinGen
TOPMed
CA1817348
rs750479581
390 L>M No ClinGen
ExAC
gnomAD
CA1817347
rs144829459
392 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs761970876
CA1817346
397 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1232121779
CA348109814
397 H>Y No ClinGen
gnomAD
CA53858801
COSM1690861
rs865916184
398 R>C Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
COSM236587
CA1817345
rs144935783
398 R>H Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1817344
rs144935783
398 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 400 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs370374528
CA1817343
401 N>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA348109789
rs1210068130
401 N>T No ClinGen
gnomAD
TCGA novel 402 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 402 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1817342
rs202006816
405 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA348109745
rs1237507662
407 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1817341
rs770438688
410 H>N No ClinGen
ExAC
gnomAD
rs746461895
CA1817340
CA53858800
412 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1304601667
CA348109712
412 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA348109709
rs1240815104
413 F>I No ClinGen
TOPMed
CA1817338
rs771709463
414 I>M No ClinGen
ExAC
gnomAD
CA348109698
rs1337901290
414 I>T No ClinGen
TOPMed
gnomAD
rs139141184
CA1817339
414 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA53858799
rs917318306
417 L>I No ClinGen
Ensembl
CA348109679
rs917318306
417 L>V No ClinGen
Ensembl
rs1573232126
CA348109662
419 D>G No ClinGen
Ensembl
rs1055915782
CA348109665
419 D>N No ClinGen
TOPMed
gnomAD
rs1055915782
CA53858798
419 D>Y No ClinGen
TOPMed
gnomAD
rs1175555223
CA348109642
422 Q>E No ClinGen
gnomAD
rs747806776
CA1817337
423 E>* No ClinGen
ExAC
gnomAD
rs747806776
CA348109635
423 E>Q No ClinGen
ExAC
gnomAD
rs1558688170
CA348109620
425 T>A No ClinGen
Ensembl
CA1817336
rs778650793
425 T>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 425 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 428 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1305505
rs1159334068
CA348109585
430 Q>K Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA1817335
rs754838335
431 P>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA348109568
rs1255115078
432 N>T No ClinGen
gnomAD
rs1187149898
CA348109559
433 P>L No ClinGen
TOPMed
gnomAD
rs1259038981
CA348109557
434 P>A No ClinGen
gnomAD
rs992026369
CA53858796
437 G>A No ClinGen
TOPMed
rs992026369
CA348109537
437 G>D No ClinGen
TOPMed
CA1817291
rs745813010
441 I>T No ClinGen
ExAC
gnomAD
rs1406759009
CA348109312
442 L>F No ClinGen
TOPMed
CA1817290
rs781048303
443 I>L No ClinGen
ExAC
gnomAD
rs1345838434
CA348109300
444 M>V No ClinGen
gnomAD
CA1817288
rs567302242
445 M>I No ClinGen
1000Genomes
ExAC
gnomAD
rs1235340802
CA348109280
446 S>F No ClinGen
gnomAD
rs1573194983
CA348109282
446 S>P No ClinGen
Ensembl
CA1817286
rs758673479
447 M>I No ClinGen
ExAC
gnomAD
CA1817287
rs139982021
447 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1817284
rs779333492
449 R>T No ClinGen
ExAC
gnomAD
rs1249177719
CA348109239
452 H>P No ClinGen
Ensembl
CA1817283
rs755359262
452 H>Y No ClinGen
ExAC
gnomAD
rs932308838
CA53856366
453 V>G No ClinGen
TOPMed
gnomAD
rs1374324090
COSM3390838
CA348109235
453 V>M pancreas [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1436218065
CA348109226
454 Y>S No ClinGen
gnomAD
rs1157872116
CA348109216
455 E>D No ClinGen
gnomAD
TCGA novel 455 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766724524
CA1817281
456 Y>* No ClinGen
ExAC
gnomAD
rs1418922434
CA348109210
456 Y>S No ClinGen
gnomAD
CA1817279
rs751018682
460 V>M No ClinGen
ExAC
TOPMed
gnomAD
COSM3390837
rs762559384
CA1817277
461 R>Q Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs763640071
CA1817278
461 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs775069737
CA1817276
463 T>A No ClinGen
ExAC
gnomAD
rs761386990
CA1817275
463 T>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 464 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348109168
rs1289911271
464 E>K No ClinGen
gnomAD
CA1817273
rs776520830
466 C>W No ClinGen
ExAC
gnomAD
rs1573194804
CA348109145
467 H>P No ClinGen
Ensembl
rs1354682908
CA348109141
467 H>Q No ClinGen
gnomAD
CA53856364
rs199567558
469 H>D No ClinGen
1000Genomes
CA1817272
rs141942088
470 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA348109118
rs1382127720
471 L>M No ClinGen
gnomAD
CA348109108
rs1287940346
472 Y>C No ClinGen
TOPMed
gnomAD
rs375214904
CA1817270
474 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs375214904
CA53856363
474 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149599398
COSM1004955
CA1817268
475 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1573194713
CA348109079
477 C>R No ClinGen
Ensembl
CA348109071
rs1189266638
478 T>A No ClinGen
gnomAD
CA348109072
rs1189266638
478 T>P No ClinGen
gnomAD
COSM1398629
CA348109058
rs1259672152
480 G>R Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1369823574
CA348109054
481 A>T No ClinGen
TOPMed
CA1817266
COSM3960928
rs755229256
481 A>V lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
TCGA novel 484 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348109020
rs1269804780
486 L>F No ClinGen
gnomAD
rs1269804780
CA348109022
486 L>I No ClinGen
gnomAD
rs780492884
CA1817263
487 Y>C No ClinGen
ExAC
gnomAD
rs958478679
CA53856361
487 Y>H No ClinGen
Ensembl
rs780492884
CA348109014
487 Y>S No ClinGen
ExAC
gnomAD
TCGA novel 488 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348108996
rs1246831675
489 K>N No ClinGen
gnomAD
TCGA novel 493 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA53856360
COSM3787836
rs1032769723
494 R>C pancreas [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs757962368
CA1817260
COSM200545
494 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757962368
CA1817259
494 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs752265203
CA1817258
496 N>H No ClinGen
ExAC
gnomAD
CA1817257
rs764730765
497 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs759254626
CA1817256
498 G>C No ClinGen
ExAC
gnomAD
CA1817255
rs776266456
COSM1398628
499 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 500 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1817253
COSM1526975
rs760683299
COSM1266855
501 G>R lung oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1375857317
CA348108904
504 H>L No ClinGen
gnomAD
CA1817252
rs773338561
504 H>Y No ClinGen
ExAC
gnomAD
rs772145681
CA1817251
COSM1690860
505 R>C ovary Variant assessed as Somatic; 0.0 impact. skin [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs376753460
CA1817250
505 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376753460
CA348108899
505 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1573194439
CA348108897
506 K>Q No ClinGen
Ensembl
TCGA novel 507 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA348108878
rs1211602212
508 K>N No ClinGen
gnomAD
CA1817248
rs768714929
508 K>T No ClinGen
ExAC
gnomAD
rs1239396065
CA348108872
509 V>A No ClinGen
TOPMed
CA1817247
rs34558933
511 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1817246
rs780368546
512 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs746361790
CA1817244
513 G>S No ClinGen
ExAC
TOPMed
CA1817240
rs200325346
516 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781622034
CA1817242
516 A>T No ClinGen
ExAC
gnomAD
CA1817241
COSM267514
rs200325346
516 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1817237
rs754554820
518 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs753592483
CA1817236
519 C>G No ClinGen
ExAC
gnomAD
TCGA novel 520 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1817235
rs766262183
521 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA1817234
rs150941884
522 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA348108791
rs1392084083
523 S>N No ClinGen
gnomAD
rs773142087
CA1817233
527 P>S No ClinGen
ExAC
gnomAD

No associated diseases with Q96JF0

No regional properties for Q96JF0

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q96JF0

Functions

Description
EC Number 2.4.3.1 Sialyltransferases
Subcellular Localization
  • Golgi apparatus, Golgi stack membrane ; Single-pass type II membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi cisterna membrane The lipid bilayer surrounding any of the thin, flattened compartments that form the central portion of the Golgi complex.
Golgi membrane The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
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.

1 GO annotations of molecular function

Name Definition
beta-galactoside alpha-2,6-sialyltransferase activity Catalysis of the reaction: CMP-N-acetylneuraminate + beta-D-galactosyl-(1->4)-acetyl-beta-D-glucosamine = CMP + alpha-N-acetylneuraminyl-(2->6)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosamine.

3 GO annotations of biological process

Name Definition
oligosaccharide metabolic process The chemical reactions and pathways involving oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages.
protein glycosylation A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.
sialylation The covalent attachment of sialic acid to a substrate molecule.

11 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q92184 ST6GALNAC2 Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 Gallus gallus (Chicken) PR
Q92182 ST6GAL1 Beta-galactoside alpha-2,6-sialyltransferase 1 Gallus gallus (Chicken) PR
Q701R0 ST6GAL2 Beta-galactoside alpha-2,6-sialyltransferase 2 Gallus gallus (Chicken) PR
Q9UJ37 ST6GALNAC2 Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 Homo sapiens (Human) PR
Q9BVH7 ST6GALNAC5 Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 Homo sapiens (Human) PR
P15907 ST6GAL1 Beta-galactoside alpha-2,6-sialyltransferase 1 Homo sapiens (Human) PR
Q64685 St6gal1 Beta-galactoside alpha-2,6-sialyltransferase 1 Mus musculus (Mouse) PR
Q9QYJ1 St6galnac5 Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 Mus musculus (Mouse) PR
P70277 St6galnac2 Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 Mus musculus (Mouse) PR
P13721 St6gal1 Beta-galactoside alpha-2,6-sialyltransferase 1 Rattus norvegicus (Rat) PR
Q9SGD2 GALT29A Beta-1,6-galactosyltransferase GALT29A Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MKPHLKQWRQ RMLFGIFAWG LLFLLIFIYF TDSNPAEPVP SSLSFLETRR LLPVQGKQRA
70 80 90 100 110 120
IMGAAHEPSP PGGLDARQAL PRAHPAGSFH AGPGDLQKWA QSQDGFEHKE FFSSQVGRKS
130 140 150 160 170 180
QSAFYPEDDD YFFAAGQPGW HSHTQGTLGF PSPGEPGPRE GAFPAAQVQR RRVKKRHRRQ
190 200 210 220 230 240
RRSHVLEEGD DGDRLYSSMS RAFLYRLWKG NVSSKMLNPR LQKAMKDYLT ANKHGVRFRG
250 260 270 280 290 300
KREAGLSRAQ LLCQLRSRAR VRTLDGTEAP FSALGWRRLV PAVPLSQLHP RGLRSCAVVM
310 320 330 340 350 360
SAGAILNSSL GEEIDSHDAV LRFNSAPTRG YEKDVGNKTT IRIINSQILT NPSHHFIDSS
370 380 390 400 410 420
LYKDVILVAW DPAPYSANLN LWYKKPDYNL FTPYIQHRQR NPNQPFYILH PKFIWQLWDI
430 440 450 460 470 480
IQENTKEKIQ PNPPSSGFIG ILIMMSMCRE VHVYEYIPSV RQTELCHYHE LYYDAACTLG
490 500 510 520
AYHPLLYEKL LVQRLNMGTQ GDLHRKGKVV LPGFQAVHCP APSPVIPHS