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 Q9UK23

Entry ID Method Resolution Chain Position Source
AF-Q9UK23-F1 Predicted AlphaFoldDB

625 variants for Q9UK23

Variant ID(s) Position Change Description Diseaes Association Provenance
VAR_073225
rs755458782
CA278900
RCV000023671
84 H>Q Stuttering, familial persistent, 2 rare variant; found in individuals suffering from stuttering; unknown pathological significance [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
ExAC
TOPMed
dbSNP
gnomAD
RCV000023672
CA278610
rs139526942
VAR_073226
328 R>C Stuttering, familial persistent, 2 rare variant; found in individuals suffering from stuttering; unknown pathological significance [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA277168589
rs1054520738
2 A>E No ClinGen
gnomAD
CA394669353
rs1199388261
2 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7888999
rs769231389
3 T>I No ClinGen
ExAC
gnomAD
CA394669344
rs1596671606
3 T>P No ClinGen
Ensembl
CA394669329
rs1433608675
4 S>C No ClinGen
TOPMed
CA394669322
rs1268133707
5 T>A No ClinGen
TOPMed
gnomAD
rs1225518688
CA394669311
COSM1708719
5 T>M skin [Cosmic] No ClinGen
cosmic curated
gnomAD
CA394669300
rs1218006989
6 G>V No ClinGen
TOPMed
CA7888997
rs780511157
7 R>S No ClinGen
ExAC
rs1313603972
COSM1378267
CA394669281
8 W>* Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA7888996
rs772320265
9 L>R No ClinGen
ExAC
gnomAD
rs911192297
CA277168522
10 L>F No ClinGen
TOPMed
CA394669259
rs1374214459
10 L>R No ClinGen
TOPMed
gnomAD
rs1007237733
CA277168518
11 L>F No ClinGen
TOPMed
rs985903141
CA277168515
11 L>H No ClinGen
TOPMed
gnomAD
CA277168514
rs985903141
11 L>R No ClinGen
TOPMed
gnomAD
rs1166450027
CA394669240
12 R>P No ClinGen
TOPMed
gnomAD
rs1166450027
CA394669242
12 R>Q No ClinGen
TOPMed
gnomAD
rs372096002
CA7888994
12 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394669236
rs1473615201
13 L>F No ClinGen
gnomAD
TCGA novel 16 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA277168502
rs558456065
17 G>R No ClinGen
1000Genomes
gnomAD
rs1253282100
CA394669167
18 F>L No ClinGen
gnomAD
CA277168498
rs999904620
18 F>L No ClinGen
TOPMed
rs1182825611
CA394669155
19 L>I No ClinGen
gnomAD
rs1482648154
CA394669149
19 L>P No ClinGen
gnomAD
rs1270701466
CA394669144
20 W>R No ClinGen
TOPMed
gnomAD
rs975985119
CA277168497
21 E>G No ClinGen
Ensembl
CA7888993
rs756904501
21 E>K No ClinGen
ExAC
gnomAD
CA7888992
rs367838663
22 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1309495007
CA394669110
22 A>S No ClinGen
gnomAD
CA394669093
rs1353668788
23 S>Y No ClinGen
gnomAD
CA7888991
rs777398400
24 G>D No ClinGen
ExAC
gnomAD
rs1410979269
CA394669074
25 G>C No ClinGen
gnomAD
CA394669079
rs1410979269
25 G>S No ClinGen
gnomAD
CA394669063
rs1327340771
26 L>F No ClinGen
gnomAD
rs1327340771
CA394669065
26 L>V No ClinGen
gnomAD
rs756116139
CA7888990
27 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA277168461
rs904096255
27 D>Y No ClinGen
TOPMed
gnomAD
rs74952829
CA394669024
28 S>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs74952829
CA7888989
RCV000890192
28 S>L No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1342940079
CA394668976
30 A>V No ClinGen
gnomAD
CA394668966
rs1481716264
31 S>C No ClinGen
TOPMed
gnomAD
CA394668933
rs1171581949
33 D>E No ClinGen
TOPMed
gnomAD
rs764293414
CA7888960
33 D>N No ClinGen
ExAC
gnomAD
CA7888959
rs760685655
34 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA394668931
rs1232875183
34 D>N No ClinGen
gnomAD
rs891930254
CA277168326
35 D>E No ClinGen
Ensembl
rs1390519793
CA394668914
35 D>N No ClinGen
TOPMed
gnomAD
rs1390519793
CA394668911
35 D>Y No ClinGen
TOPMed
gnomAD
CA394668896
rs1459318971
36 L>* No ClinGen
TOPMed
CA394668876
rs1475167796
38 L>M No ClinGen
gnomAD
CA394668872
rs1240494628
38 L>P No ClinGen
gnomAD
TCGA novel 39 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs965950443
CA277168315
40 Y>C No ClinGen
TOPMed
gnomAD
CA394668852
rs1486311390
40 Y>D No ClinGen
gnomAD
rs1486311390
CA394668854
40 Y>H No ClinGen
gnomAD
CA394668838
rs1344784742
41 P>L No ClinGen
gnomAD
rs567399771
CA7888958
41 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA394668843
rs567399771
41 P>T No ClinGen
1000Genomes
ExAC
gnomAD
CA277168313
rs1054637014
42 R>G No ClinGen
Ensembl
CA7888957
rs767942322
42 R>H No ClinGen
ExAC
gnomAD
rs774894492
CA394668811
43 A>E No ClinGen
ExAC
gnomAD
CA7888955
rs774894492
43 A>V No ClinGen
ExAC
gnomAD
rs374266430
CA7888952
44 R>P No ClinGen
1000Genomes
TOPMed
rs769417523
CA7888949
45 A>V No ClinGen
ExAC
gnomAD
rs780701379
CA7888947
46 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA7888945
rs371054576
47 L>F No ClinGen
1000Genomes
TOPMed
CA394668744
rs1169475682
48 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 48 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7888939
rs758180831
50 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs750175079
CA394668695
52 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs764228417
CA7888937
52 T>I No ClinGen
ExAC
gnomAD
rs750175079
CA7888938
52 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs756320574
CA7888936
53 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1186439242
CA394668677
53 R>W No ClinGen
gnomAD
CA394668657
rs1252325409
55 R>C No ClinGen
gnomAD
CA7888935
rs551231765
56 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA394668647
rs551231765
56 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7888934
rs767601581
56 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA7888933
rs760186473
57 G>C No ClinGen
ExAC
gnomAD
CA7888932
rs752098457
57 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs760186473
CA394668640
57 G>S No ClinGen
ExAC
gnomAD
CA277168213
rs902872445
58 N>H No ClinGen
TOPMed
rs1411653190
CA394668620
58 N>S No ClinGen
TOPMed
gnomAD
rs773582869
CA7888929
60 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA394668599
rs773582869
60 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA394668573
rs1351362482
61 H>L No ClinGen
TOPMed
gnomAD
CA394668568
CA394668570
rs761502342
61 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs776047179
CA394668561
62 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs768153175
CA7888925
62 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA7888926
rs776047179
62 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs896748298
CA277168176
63 S>T No ClinGen
TOPMed
TCGA novel 64 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757955863
CA277168171
65 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA7888924
rs747010884
66 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA394668498
rs1392659410
66 P>S No ClinGen
gnomAD
rs779983941
CA394668489
67 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA394668481
rs1177031184
67 P>L No ClinGen
gnomAD
CA7888923
rs779983941
67 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA394668475
rs1479882564
68 P>S No ClinGen
TOPMed
gnomAD
CA394668479
rs1479882564
68 P>T No ClinGen
TOPMed
gnomAD
CA7888920
rs373423815
69 A>S No ClinGen
ESP
TOPMed
gnomAD
CA394668467
rs373423815
69 A>T No ClinGen
ESP
TOPMed
gnomAD
rs531537200
CA277168153
71 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7888918
rs758623566
71 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA7888919
rs531537200
71 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1229670764
CA394668436
72 G>S No ClinGen
gnomAD
rs755122540
CA7888914
73 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs755122540
CA394668406
73 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1336784696
CA394668414
73 A>P No ClinGen
TOPMed
rs1336784696
CA394668416
73 A>T No ClinGen
TOPMed
rs767020820
CA7888912
74 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs750799727
CA7888910
75 G>D No ClinGen
ExAC
gnomAD
rs1442002680
CA394668388
75 G>S No ClinGen
gnomAD
rs750799727
CA394668377
75 G>V No ClinGen
ExAC
gnomAD
rs765606562
CA7888909
76 L>V No ClinGen
ExAC
gnomAD
CA394668325
rs1364418307
78 V>L No ClinGen
gnomAD
rs1417795888
CA394668302
79 R>C No ClinGen
gnomAD
CA7888906
rs373128375
RCV000896689
79 R>H No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7888905
rs760183363
80 T>I No ClinGen
ExAC
gnomAD
CA277168064
rs753282950
82 V>G No ClinGen
Ensembl
rs889971566
CA394668243
83 S>L No ClinGen
gnomAD
rs779242474
CA7888904
83 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA277168062
rs889971566
83 S>W No ClinGen
gnomAD
rs772021271
CA7888903
84 H>Y No ClinGen
ExAC
gnomAD
rs778638792
CA7888902
86 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA277168058
rs778638792
86 R>M No ClinGen
ExAC
TOPMed
gnomAD
rs753960829
CA7888901
86 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA394668159
rs1243703634
87 D>N No ClinGen
TOPMed
CA277168048
rs766439367
88 R>C No ClinGen
TOPMed
gnomAD
CA394668139
rs766439367
88 R>G No ClinGen
TOPMed
gnomAD
rs1301567430
CA394668134
88 R>L No ClinGen
gnomAD
CA394668128
rs1216735213
89 A>S No ClinGen
TOPMed
CA394668121
rs1262340392
89 A>V No ClinGen
TOPMed
rs537314942
CA277168047
90 V>M No ClinGen
gnomAD
rs781569034
CA7888899
91 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA277168040
rs764779114
93 H>N No ClinGen
TOPMed
gnomAD
CA394668061
rs764779114
93 H>Y No ClinGen
TOPMed
gnomAD
rs751708486
CA7888897
95 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA394668017
rs751708486
95 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA394668006
rs1190124756
96 R>P No ClinGen
TOPMed
gnomAD
CA394668010
rs1190124756
96 R>Q No ClinGen
TOPMed
gnomAD
rs780256576
CA7888896
96 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1353571043
CA394667990
97 A>V No ClinGen
gnomAD
TCGA novel
CA394667988
rs1260513327
98 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA394667987
rs1260513327
98 V>L No ClinGen
TOPMed
gnomAD
CA7888894
rs750938628
100 P>L No ClinGen
ExAC
gnomAD
CA394667933
rs1303790569
102 R>S No ClinGen
TOPMed
CA7888892
rs757657354
105 S>* No ClinGen
ExAC
gnomAD
CA394667880
rs1380569297
106 V>M No ClinGen
gnomAD
CA277168021
rs978511040
108 E>A No ClinGen
TOPMed
CA7888891
rs754139053
108 E>D No ClinGen
ExAC
gnomAD
CA394667860
rs1357400606
108 E>K No ClinGen
TOPMed
gnomAD
CA394667858
rs1357400606
108 E>Q No ClinGen
TOPMed
gnomAD
rs763768552
CA394667844
109 P>A No ClinGen
ExAC
gnomAD
rs763768552
CA7888890
109 P>S No ClinGen
ExAC
gnomAD
CA394667828
rs1374030518
110 G>D No ClinGen
gnomAD
CA394667819
rs1170002897
111 G>* No ClinGen
gnomAD
CA7888887
rs767007994
112 P>S No ClinGen
ExAC
gnomAD
rs774358156
CA7888885
113 G>R No ClinGen
ExAC
rs1475921238
CA394667785
113 G>V No ClinGen
TOPMed
gnomAD
rs1187155872
CA394667779
114 G>C No ClinGen
TOPMed
gnomAD
rs1484613583
CA394667746
116 A>S No ClinGen
gnomAD
CA7888882
rs540387207
116 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA394667738
rs1340366206
117 A>T No ClinGen
gnomAD
CA7888880
rs747200616
118 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA394667728
rs577942444
118 R>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs577942444
CA7888879
118 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs745882066
CA7888877
118 R>S No ClinGen
ExAC
gnomAD
CA7888878
rs577942444
118 R>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7888876
rs779483474
119 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs779483474
CA394667724
119 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs779483474
CA277167931
119 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1331351693
CA394667721
120 R>C No ClinGen
gnomAD
CA7888873
rs376983449
121 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7888874
rs376983449
121 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1163582236
CA394667705
123 V>E No ClinGen
gnomAD
CA7888871
rs752331103
123 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA394667707
rs752331103
123 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1474221128
CA394667702
124 E>K No ClinGen
gnomAD
rs1474221128
CA394667701
124 E>Q No ClinGen
gnomAD
rs1234514153
CA394667694
125 E>K No ClinGen
gnomAD
CA394667681
rs1182381070
126 T>M No ClinGen
gnomAD
CA7888869
rs759090418
127 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA7888867
rs766358837
128 R>W No ClinGen
ExAC
gnomAD
rs762958744
CA7888866
129 A>E No ClinGen
ExAC
gnomAD
rs762958744
CA277167875
129 A>G No ClinGen
ExAC
gnomAD
CA394667651
rs1281801499
131 D>Y No ClinGen
gnomAD
rs773180648
CA394667633
132 C>G No ClinGen
ExAC
TOPMed
gnomAD
CA7888865
rs773180648
132 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA277167872
rs769705244
133 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs747294639
CA7888863
133 R>H No ClinGen
ExAC
gnomAD
CA7888864
rs769705244
133 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1324675283
CA394667610
134 V>I No ClinGen
gnomAD
CA7888861
rs772119932
135 A>P No ClinGen
ExAC
gnomAD
CA394667576
rs1418831913
136 Q>* No ClinGen
gnomAD
CA394667532
rs757835068
139 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA394667537
rs1361908653
139 G>S No ClinGen
gnomAD
CA7888858
rs757835068
139 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs756481058
CA7888856
142 R>C No ClinGen
ExAC
gnomAD
rs752989286
CA394667487
142 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA7888854
rs752989286
142 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs756481058
CA7888855
142 R>S No ClinGen
ExAC
gnomAD
CA7888853
rs780925842
143 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs998668179
CA277167823
146 G>S No ClinGen
Ensembl
rs763048484
CA7888849
149 L>P No ClinGen
ExAC
TOPMed
CA7888850
rs765773615
149 L>V No ClinGen
ExAC
gnomAD
rs189630368
CA7888848
152 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1236906353
CA394667272
152 V>M No ClinGen
gnomAD
rs1438180379
CA394667236
153 V>G No ClinGen
gnomAD
rs757080753
CA7888846
154 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs986035550
CA277167802
154 S>R No ClinGen
TOPMed
CA7888844
rs555992031
156 E>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs555992031
CA7888845
156 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1400115024
CA394667160
157 R>W No ClinGen
gnomAD
CA394667148
rs1382656589
158 R>Q No ClinGen
gnomAD
CA7888843
rs759659612
159 V>G No ClinGen
ExAC
gnomAD
CA277167785
rs1036974117
159 V>M No ClinGen
Ensembl
CA394667132
rs1596670084
160 S>G No ClinGen
Ensembl
CA394667089
rs1221687376
162 S>F No ClinGen
TOPMed
rs1567142845
CA394667099
162 S>P No ClinGen
Ensembl
CA7888840
rs535996462
163 G>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7888839
rs778254053
164 G>E No ClinGen
ExAC
gnomAD
CA394667075
rs1243972266
CA394667076
164 G>R No ClinGen
TOPMed
gnomAD
rs761809784 165 L>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 168 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7888836
rs748530288
169 Q>* No ClinGen
ExAC
gnomAD
rs1217179383
CA394666974
170 F>L No ClinGen
gnomAD
rs754698931
CA7888834
171 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs781388462
CA7888835
171 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA7888833
rs371741432
172 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1567142778
CA394666941
173 R>C No ClinGen
Ensembl
CA394666938
rs1324122220
173 R>H No ClinGen
gnomAD
CA277167759
rs1049428113
174 R>S No ClinGen
TOPMed
CA394666929
rs1374638042
175 D>G No ClinGen
gnomAD
rs757997546
CA7888832
175 D>N No ClinGen
ExAC
gnomAD
CA7888831
rs757997546
175 D>Y No ClinGen
ExAC
gnomAD
CA277167748
CA7888830
rs573363602
176 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1166545860
CA394666920
177 T>A No ClinGen
TOPMed
rs536449176
CA277167739
178 L>V No ClinGen
Ensembl
CA394665621
rs1329407551
185 E>D No ClinGen
gnomAD
rs1567141749
CA394665601
186 E>D No ClinGen
Ensembl
CA394665612
rs1567141753
186 E>K No ClinGen
Ensembl
CA7888793
rs373224955
187 E>K No ClinGen
ESP
ExAC
TOPMed
rs1567141744
CA394665590
187 E>V No ClinGen
Ensembl
CA7888792
rs138721187
188 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7888791
rs771900260
189 L>P No ClinGen
ExAC
gnomAD
rs778637588
CA7888789
191 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA394665553
rs778637588
191 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA394665551
rs778637588
191 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA7888787
rs748777017
192 E>A No ClinGen
ExAC
gnomAD
rs777599519
CA7888786
193 N>I No ClinGen
ExAC
gnomAD
CA7888785
rs756025806
194 P>L No ClinGen
ExAC
gnomAD
CA394665471
rs1346007408
195 F>I No ClinGen
TOPMed
rs1434566978
CA394665424
197 Q>* No ClinGen
TOPMed
rs146071322
CA7888784
197 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376620112
CA7888782
199 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA277166844
rs934850844
200 S>N No ClinGen
TOPMed
gnomAD
CA394665360
rs1398771926
200 S>R No ClinGen
gnomAD
rs934850844
CA394665367
200 S>T No ClinGen
TOPMed
gnomAD
rs765383118
CA7888780
201 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA394665313
rs1395832775
202 V>G No ClinGen
gnomAD
rs761805447
CA7888779
202 V>I No ClinGen
ExAC
gnomAD
rs142777588
CA7888777
203 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394665260
rs1462128562
205 L>P No ClinGen
TOPMed
gnomAD
rs1462128562
CA394665258
205 L>Q No ClinGen
TOPMed
gnomAD
CA394665261
rs1285469871
205 L>V No ClinGen
TOPMed
CA7888774
rs772564903
206 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA394665255
rs772564903
206 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA7888773
rs563568796
207 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs145897634
CA394665232
207 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA394665228
rs145897634
207 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145897634
CA7888772
207 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394665214
rs1186686526
208 N>S No ClinGen
gnomAD
CA277166817
rs974485897
209 G>R No ClinGen
TOPMed
CA394665151
rs1160230707
211 I>V No ClinGen
TOPMed
CA277166810
rs367875684
213 I>V No ClinGen
Ensembl
CA7888770
rs777312583
214 N>K No ClinGen
ExAC
gnomAD
rs140529374
CA7888771
214 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs575036159
CA7888767
215 E>A No ClinGen
1000Genomes
ExAC
gnomAD
CA7888766
rs373325172
215 E>D No ClinGen
ESP
ExAC
gnomAD
CA7888768
rs769655466
215 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs555338465
CA7888764
218 A>G No ClinGen
1000Genomes
ExAC
gnomAD
rs754779256
CA7888765
218 A>T No ClinGen
ExAC
gnomAD
rs1012506844
CA277166768
221 C>R No ClinGen
TOPMed
rs757454165
CA277166764
222 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA394664921
rs1328745834
223 E>D No ClinGen
gnomAD
CA7888760
rs764203636
223 E>G No ClinGen
ExAC
gnomAD
rs143077001
CA7888761
223 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1567141587
CA394664891
225 Q>R No ClinGen
Ensembl
CA394664872
rs200736428
226 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200736428
CA7888759
226 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753247110
CA394664843
228 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA7888758
rs753247110
228 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1236112150
CA394664541
229 S>F No ClinGen
gnomAD
rs1273786543
CA394664522
230 F>L No ClinGen
TOPMed
gnomAD
rs556410594
CA277166074
230 F>L No ClinGen
1000Genomes
rs1311016539
CA394664480
232 K>* No ClinGen
TOPMed
rs777777436
CA394664433
CA7888743
234 V>L No ClinGen
ExAC
gnomAD
TCGA novel 236 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7888740
rs149067161
237 I>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372687131
CA7888741
237 I>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1175280574
CA394664324
238 S>L No ClinGen
gnomAD
rs1358453493
CA394664339
238 S>T No ClinGen
gnomAD
CA394664285
rs369118431
241 T>K No ClinGen
ESP
ExAC
gnomAD
rs369118431
CA7888739
241 T>M No ClinGen
ESP
ExAC
gnomAD
CA394664262
rs1033498304
243 I>L No ClinGen
TOPMed
gnomAD
CA277166063
rs1033498304
243 I>V No ClinGen
TOPMed
gnomAD
CA394664227
rs1243847815
244 G>D No ClinGen
gnomAD
rs1379036102
CA394664232
244 G>R No ClinGen
gnomAD
CA394664210
rs1195046019
245 H>Y No ClinGen
gnomAD
CA394664156
rs766476242
246 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs766757654
CA7888737
246 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA394664162
rs766757654
246 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs375819673
CA7888735
247 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1313101051
CA394664149
247 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs764727066
CA7888734
248 K>Q No ClinGen
ExAC
rs1217051088
CA394664115
249 G>E No ClinGen
gnomAD
CA7888733
rs372401616
250 Q>P No ClinGen
ESP
ExAC
TOPMed
rs906380972
CA277166032
252 V>L No ClinGen
Ensembl
CA394664035
rs1270257806
254 F>S No ClinGen
gnomAD
rs1338297764
CA394664016
255 H>D No ClinGen
TOPMed
gnomAD
TCGA novel 255 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1314544104
CA394663986
256 A>S No ClinGen
gnomAD
rs1314544104
CA394663975
256 A>T No ClinGen
gnomAD
rs776070820
CA394663938
257 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1415193835
CA394663944
257 D>G No ClinGen
gnomAD
rs1207501460
CA394663949
257 D>Y No ClinGen
gnomAD
CA277166029
rs868826869
258 G>D No ClinGen
Ensembl
COSM179092
CA394663927
rs1333754646
258 G>S large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA7888731
rs768631801
259 Q>R No ClinGen
ExAC
gnomAD
CA394663885
rs1421810124
260 T>A No ClinGen
gnomAD
rs1009738117
CA394663876
260 T>K No ClinGen
TOPMed
gnomAD
CA277166024
rs1009738117
260 T>M No ClinGen
TOPMed
gnomAD
rs1422139534
CA394663825
262 Q>R No ClinGen
TOPMed
gnomAD
rs918720031
CA277166017
263 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA394663803
rs1483788196
COSM3771962
263 R>H pancreas [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1483788196
CA394663788
263 R>L No ClinGen
TOPMed
gnomAD
CA394663770
rs1212788262
264 G>D No ClinGen
gnomAD
CA7888700
rs1555445214
265 I>V No ClinGen
Ensembl
rs765557288
CA7888696
COSM1678826
268 W>* kidney [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1354170633
CA394663000
268 W>G No ClinGen
TOPMed
gnomAD
rs750850261
CA7888697
268 W>S No ClinGen
ExAC
gnomAD
rs116398133
CA7888695
269 E>D No ClinGen
1000Genomes
ExAC
rs1195452454
CA394662968
270 M>V No ClinGen
TOPMed
CA394662943
rs141149941
271 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7888694
rs141149941
271 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752111392
CA7888690
273 F>L No ClinGen
ExAC
gnomAD
CA277161533
rs1048813615
273 F>L No ClinGen
Ensembl
CA7888689
rs767515913
276 K>Q No ClinGen
ExAC
gnomAD
CA277161522
rs1027719796
277 Q>E No ClinGen
TOPMed
gnomAD
rs759357440
CA7888688
278 D>N No ClinGen
ExAC
gnomAD
CA7888685
rs762778282
279 V>E No ClinGen
ExAC
gnomAD
CA7888687
rs770833107
279 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs770833107
CA7888686
279 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs147838773
CA7888683
280 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147838773
CA7888682
280 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7888679
rs746356156
282 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA7888680
rs772676182
282 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs139565850
CA7888678
284 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs139565850
CA277161494
284 N>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1286374016
CA394662773
285 L>V No ClinGen
gnomAD
CA394662762
rs1234150276
COSM1519479
286 D>H lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA277161493
rs978799496
287 G>R No ClinGen
TOPMed
rs757635332
CA7888677
288 G>V No ClinGen
ExAC
gnomAD
TCGA novel 288 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs555794005
CA7888674
290 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA394662691
rs1298021309
292 T>S No ClinGen
gnomAD
CA394662670
rs1421405982
294 V>L No ClinGen
TOPMed
CA7888672
rs371976728
296 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7888670
rs751552788
297 G>E No ClinGen
ExAC
gnomAD
rs1042800909
CA277161470
297 G>R No ClinGen
TOPMed
gnomAD
CA277161464
rs945789351
300 A>D No ClinGen
TOPMed
rs768971585
CA7888666
301 S>I No ClinGen
ExAC
gnomAD
rs1290944090
CA394662559
302 Y>* No ClinGen
TOPMed
CA7888665
rs760778685
302 Y>H No ClinGen
ExAC
gnomAD
rs772034051
CA7888663
303 P>L No ClinGen
ExAC
gnomAD
rs867116614
CA277161454
303 P>L No ClinGen
Ensembl
rs775705425
CA7888664
303 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1254374511
CA394662537
304 S>* No ClinGen
gnomAD
CA394662515
rs1596663132
306 H>N No ClinGen
Ensembl
rs779401062
CA7888660
306 H>R No ClinGen
ExAC
gnomAD
CA7888658
rs771389815
307 C>Y No ClinGen
ExAC
gnomAD
CA394662475
rs1183942020
309 D>E No ClinGen
gnomAD
rs766429170
CA7888620
309 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs369403961
CA7888619
310 N>S No ClinGen
ESP
ExAC
gnomAD
rs1407539465
CA394662461
311 M>L No ClinGen
TOPMed
rs1236572192
CA394662455
311 M>T No ClinGen
gnomAD
CA7888617
rs773594710
312 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs557375030
CA277161027
313 R>C No ClinGen
1000Genomes
TOPMed
gnomAD
rs969769612
CA277161024
313 R>H No ClinGen
TOPMed
gnomAD
rs969769612
CA394662425
313 R>L No ClinGen
TOPMed
gnomAD
CA7888616
rs770293026
315 P>S No ClinGen
ExAC
gnomAD
CA7888615
rs748481863
316 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA7888614
rs201325687
316 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394662392
rs201325687
316 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1378122766
CA394662384
317 Q>R No ClinGen
gnomAD
CA394662369
rs1229935347
318 V>A No ClinGen
TOPMed
CA394662353
rs1450647488
320 T>A No ClinGen
TOPMed
gnomAD
rs779769498
COSM1678825
CA7888611
321 V>M large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs757997529
CA7888610
322 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA394662334
rs1446761536
322 V>L No ClinGen
gnomAD
rs1446761536
CA394662337
322 V>M No ClinGen
gnomAD
CA394662323
rs1406328285
323 C>Y No ClinGen
TOPMed
gnomAD
CA394662314
rs1413457985
324 V>M No ClinGen
gnomAD
CA394662283
rs1473846012
326 E>G No ClinGen
TOPMed
rs373127083
CA7888606
326 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs373127083
CA7888607
326 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394662272
rs1413793446
327 P>L No ClinGen
TOPMed
rs777596117
CA394662276
327 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA7888605
rs777596117
327 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs139526942
CA394662268
328 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7888604
rs146390725
328 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs887299809
CA277160983
330 Q>R No ClinGen
Ensembl
rs757866039
CA7888603
331 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1244111084
CA394662230
332 P>S No ClinGen
gnomAD
CA277160965
rs1005093713
333 D>H No ClinGen
TOPMed
CA394662207
rs1310199656
334 C>F No ClinGen
TOPMed
gnomAD
rs1356099470
CA394662211
334 C>R No ClinGen
TOPMed
gnomAD
CA394662205
rs1310199656
334 C>S No ClinGen
TOPMed
gnomAD
CA394662203
rs1310199656
334 C>Y No ClinGen
TOPMed
gnomAD
rs377245129
CA7888599
336 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769130183
CA7888598
337 H>Q No ClinGen
ExAC
gnomAD
rs761063988
CA7888596
338 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs752371706
CA7888592
341 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs752371706
CA7888593
COSM1239545
341 V>M oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA277160936
rs915776125
342 D>H No ClinGen
gnomAD
CA394661179
rs915776125
342 D>Y No ClinGen
gnomAD
rs138879372
CA7888589
343 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780274520
CA7888586
344 H>N No ClinGen
ExAC
gnomAD
CA7888585
rs758595502
344 H>P No ClinGen
ExAC
gnomAD
CA7888587
rs780274520
344 H>Y No ClinGen
ExAC
gnomAD
CA394661100
rs1287017369
347 C>R No ClinGen
gnomAD
CA394661098
rs1238533396
347 C>Y No ClinGen
gnomAD
CA394661079
rs1181094132
348 T>S No ClinGen
TOPMed
rs765353528
CA7888583
349 G>R No ClinGen
ExAC
gnomAD
rs1345406933
CA394661043
350 H>P No ClinGen
gnomAD
CA277160893
rs914540605
350 H>Q No ClinGen
TOPMed
gnomAD
CA394661046
rs1220357557
350 H>Y No ClinGen
gnomAD
rs762285740
CA7888582
352 W>* No ClinGen
ExAC
gnomAD
rs1053568854
CA277160878
353 R>Q No ClinGen
TOPMed
rs754382721
CA7888581
353 R>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 354 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764630462
CA7888580
354 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA394660968
rs1358103526
354 G>V No ClinGen
TOPMed
rs1450319441
CA394660967
355 P>A No ClinGen
TOPMed
CA394660942
rs150254440
356 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7888577
rs150254440
356 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1427153720
CA394660901
358 D>Y No ClinGen
gnomAD
CA394660871
rs1220060913
359 E>A No ClinGen
TOPMed
CA277160853
rs865807002
359 E>D No ClinGen
Ensembl
CA7888575
rs770485154
359 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA7888574
rs770485154
359 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1262191798
CA394660794
362 C>S No ClinGen
gnomAD
rs562201962
CA7888573
363 G>D No ClinGen
1000Genomes
ExAC
gnomAD
CA7888571
rs548877316
364 P>T No ClinGen
1000Genomes
ExAC
gnomAD
CA7888568
rs758613518
365 S>F No ClinGen
ExAC
gnomAD
CA7888566
rs778945345
368 S>R No ClinGen
ExAC
gnomAD
rs757364210
CA7888565
369 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA7888563
rs556327721
370 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1239387186
CA394660621
370 H>R No ClinGen
TOPMed
rs764722220
CA7888562
371 G>R No ClinGen
ExAC
gnomAD
rs756669461
CA7888560
372 L>M No ClinGen
ExAC
gnomAD
rs1303028774
CA394660508
373 C>Y No ClinGen
gnomAD
CA7888559
rs753155332
374 T>A No ClinGen
ExAC
gnomAD
rs377424631
CA7888558
374 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs1478783830
CA394660446
375 E>V No ClinGen
TOPMed
CA394660438
rs1020261063
376 T>A No ClinGen
TOPMed
gnomAD
CA277160785
rs1020261063
376 T>S No ClinGen
TOPMed
gnomAD
CA7888525
rs200278802
377 G>A No ClinGen
ExAC
gnomAD
rs938636342
CA394660313
377 G>R No ClinGen
TOPMed
gnomAD
rs938636342
CA277160650
377 G>S No ClinGen
TOPMed
gnomAD
rs1180373815
CA394660268
378 C>* No ClinGen
gnomAD
CA394660263
rs555347487
379 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs755414542
CA7888523
379 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA7888524
rs555347487
379 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1267815749
CA394660213
380 C>* No ClinGen
TOPMed
rs751991891
CA7888522
380 C>R No ClinGen
ExAC
gnomAD
CA394660190
rs1489949380
381 D>V No ClinGen
gnomAD
CA7888521
rs780275663
382 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA394660164
rs1216809556
382 A>V No ClinGen
gnomAD
rs764803464
CA7888518
CA394660154
383 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
TOPMed
gnomAD
NCI-TCGA
rs1567138710
CA394660143
383 G>V No ClinGen
Ensembl
rs1331587277
CA394660126
384 W>S No ClinGen
gnomAD
rs111884194
CA277160615
CA7888516
386 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA7888515
rs764144155
387 S>C No ClinGen
ExAC
gnomAD
CA394660040
rs1156873496
389 C>F No ClinGen
gnomAD
CA394660027
rs1260140603
390 S>N No ClinGen
gnomAD
CA7888513
rs775425183
391 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs775425183
CA277160610
391 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7888492
rs558660685
392 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA7888491
rs759423496
393 C>R No ClinGen
ExAC
gnomAD
CA7888490
rs137984721
394 P>H No ClinGen
ESP
ExAC
gnomAD
CA277160151
rs924915988
394 P>S No ClinGen
TOPMed
rs1164703541
CA394659797
396 G>V No ClinGen
gnomAD
rs770177369
CA7888489
397 W>C No ClinGen
ExAC
gnomAD
CA394659768
rs1369820023
399 G>V No ClinGen
TOPMed
CA394659776
rs1475662432
399 G>W No ClinGen
gnomAD
CA7888488
rs762120588
400 P>L No ClinGen
ExAC
gnomAD
rs1384124258
CA394659767
400 P>T No ClinGen
gnomAD
TCGA novel 402 C>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs141084182
CA277160130
403 Q>H No ClinGen
ESP
TOPMed
gnomAD
CA394659637
rs747044010
405 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA7888485
rs747044010
405 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1263009249
CA394659587
407 K>N No ClinGen
gnomAD
rs371454907
CA7888483
409 E>Q No ClinGen
ESP
ExAC
gnomAD
CA7888480
rs779219438
410 H>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1478799245
CA394659507
410 H>Y No ClinGen
TOPMed
CA7888479
rs748882290
412 C>F No ClinGen
ExAC
gnomAD
rs748882290
CA7888478
412 C>Y No ClinGen
ExAC
gnomAD
CA394659445
rs1299303448
413 P>S No ClinGen
gnomAD
CA7888477
rs777429782
414 C>F No ClinGen
ExAC
gnomAD
rs147782887
CA7888476
415 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7888475
rs147782887
415 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 416 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7888474
rs767607280
417 K>N No ClinGen
ExAC
gnomAD
TCGA novel 418 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA277160071
rs917427201
420 N>T No ClinGen
TOPMed
rs367664804
CA7888473
422 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs941013263
CA277160065
422 S>N No ClinGen
Ensembl
CA394659184
rs182496699
CA277160062
422 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394659170
rs1408051020
423 V>D No ClinGen
gnomAD
CA7888471
rs766274695
423 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1007250050
CA277159936
428 Q>H No ClinGen
TOPMed
gnomAD
rs140556827
CA7888442
430 L>F No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
CA7888441
rs773607591
430 L>P No ClinGen
ExAC
gnomAD
CA7888440
rs769393414
432 P>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 434 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394658821
rs1596660246
436 T>I No ClinGen
Ensembl
rs747836077
CA7888439
437 L>R No ClinGen
ExAC
TOPMed
gnomAD
COSM2834400
rs145106222
CA7888438
439 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149923128
CA7888436
440 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs780172733
CA7888435
441 E>A No ClinGen
ExAC
gnomAD
rs758325483
CA7888434
441 E>D No ClinGen
ExAC
gnomAD
CA394658744
rs1428855059
442 L>R No ClinGen
gnomAD
rs377590925
CA277159865
443 S>C No ClinGen
ESP
TOPMed
gnomAD
CA7888433
rs750233095
443 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA394658736
rs377590925
443 S>Y No ClinGen
ESP
TOPMed
gnomAD
rs778755630
CA7888432
445 F>L No ClinGen
ExAC
gnomAD
CA394658683
rs1244763579
446 T>S No ClinGen
TOPMed
rs1204900882
CA394658665
447 R>G No ClinGen
gnomAD
rs763888231
CA7888402
448 T>I No ClinGen
ExAC
gnomAD
rs199604440
CA7888399
COSM971306
449 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1194471872
CA394657595
449 A>V No ClinGen
gnomAD
rs930381835
CA277158992
450 W>C No ClinGen
TOPMed
rs562776103
CA7888396
454 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA394657496
rs1596658390
454 T>P No ClinGen
Ensembl
rs755264468
CA394657454
456 A>P No ClinGen
ExAC
gnomAD
rs755264468
CA7888393
456 A>S No ClinGen
ExAC
gnomAD
CA7888392
rs747239903
456 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs139147456
CA7888389
458 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7888390
rs139147456
458 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA277158948
rs139147456
458 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754312261
CA7888386
459 F>L No ClinGen
ExAC
gnomAD
rs375029008
CA7888387
459 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394657382
rs1454338554
460 L>F No ClinGen
gnomAD
rs1270040157
CA394657350
462 L>P No ClinGen
gnomAD
CA7888383
rs775220178
463 I>L No ClinGen
ExAC
gnomAD
CA394657313
rs1449488745
465 T>A No ClinGen
gnomAD
rs7188856
RCV000246175
VAR_020609
CA7888381
465 T>I No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA394657289
rs1205240831
466 A>V No ClinGen
TOPMed
gnomAD
rs868853879
CA277158888
467 A>T No ClinGen
Ensembl
CA277158886
rs954358100
468 N>K No ClinGen
TOPMed
CA7888379
rs371500762
471 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA277158866
rs770917515
472 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA7888378
rs770917515
472 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs749224030
CA7888377
473 L>M No ClinGen
ExAC
gnomAD
rs1329596056
CA394657218
473 L>Q No ClinGen
gnomAD
CA394657215
rs1329596056
473 L>R No ClinGen
gnomAD
CA7888375
rs769593651
474 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs769593651
CA394657205
474 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA7888374
rs747849814
475 R>I No ClinGen
ExAC
TOPMed
gnomAD
CA394657199
rs747849814
475 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA7888373
rs780357619
477 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs554516095
CA7888370
480 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs540357354
CA7888371
480 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1477223730
CA394657145
481 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7888369
rs200811972
481 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs144337301
CA277158818
483 H>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7888365
rs144337301
483 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756567115
CA7888366
483 H>Y No ClinGen
ExAC
gnomAD
rs1205529401
CA394657128
484 G>E No ClinGen
gnomAD
rs1567137284
CA394657131
484 G>R No ClinGen
Ensembl
CA7888364
rs181069423
486 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA394657113
rs1295029704
486 Y>N No ClinGen
TOPMed
CA7888362
rs751151251
488 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA394657073
rs1272203529
489 H>R No ClinGen
gnomAD
rs762393819
CA7888360
490 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs762393819
CA394657062
490 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs765882782
CA7888361
490 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs765882782
CA394657067
490 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA394657058
rs1454598332
491 L>V No ClinGen
gnomAD
CA394657049
rs1407516561
492 Q>* No ClinGen
gnomAD
CA7888358
rs769681299
492 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA394657037
rs761710720
493 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA7888357
rs761710720
493 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs776268330
CA7888356
494 M>T No ClinGen
ExAC
gnomAD
rs1006304418
CA277158773
495 N>H No ClinGen
Ensembl
rs887854
CA394656998
495 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746072004
CA7888354
496 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA394656974
rs1461324630
497 E>A No ClinGen
TOPMed
gnomAD
CA394656978
rs1184933718
497 E>K No ClinGen
gnomAD
CA7888353
rs558666958
498 P>L No ClinGen
1000Genomes
ExAC
gnomAD
COSM269688
rs141568446
CA7888349
501 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201559606
COSM3818067
CA277158739
502 E>Q Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA7888348
rs781409192
503 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA7888347
rs781409192
503 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1456025675
CA394656870
504 E>K No ClinGen
TOPMed
CA394656846
rs200663126
505 Q>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7888344
rs765970629
COSM2151499
505 Q>H central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA7888346
rs200663126
COSM2151500
505 Q>K central_nervous_system [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM2151501
rs751228440
CA394656841
505 Q>L central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA7888345
rs751228440
505 Q>P No ClinGen
ExAC
gnomAD
CA7888343
rs762483430
508 G>A No ClinGen
ExAC
TOPMed
gnomAD
COSM1378265
CA7888341
rs765209071
509 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761644062
CA7888340
509 A>V No ClinGen
ExAC
gnomAD
rs768340623
CA7888338
510 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1444776482
CA394656756
511 N>Y No ClinGen
gnomAD
rs774734976
CA7888336
512 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA7888335
rs771235861
512 P>R No ClinGen
ExAC
gnomAD
rs1257503391
CA394656731
513 F>L No ClinGen
TOPMed
rs555935043
CA7888332
515 D>Y No ClinGen
1000Genomes
TOPMed

1 associated diseases with Q9UK23

Without disease ID

2 regional properties for Q9UK23

Type Name Position InterPro Accession
domain EGF-like domain 358 - 390 IPR000742
domain Phosphodiester glycosidase 132 - 325 IPR018711

Functions

Description
EC Number 3.1.4.45 Phosphoric diester hydrolases
Subcellular Localization
  • Golgi apparatus, Golgi stack membrane ; Single-pass type I membrane protein
  • Golgi apparatus, trans-Golgi network
  • Cis/medial Golgi
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
Golgi cisterna membrane The lipid bilayer surrounding any of the thin, flattened compartments that form the central portion of the Golgi complex.
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
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity Catalysis of the reaction: glycoprotein N-acetyl-D-glucosaminyl-phospho-D-mannose + H2O = N-acetyl-D-glucosamine + glycoprotein phospho-D-mannose.

6 GO annotations of biological process

Name Definition
carbohydrate metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y.
lysosome organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases.
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.
protein modification process The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification).
protein targeting to lysosome The process of directing proteins towards the lysosome using signals contained within the protein.
secretion of lysosomal enzymes The controlled release of lysosomal enzymes by a cell.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MATSTGRWLL LRLALFGFLW EASGGLDSGA SRDDDLLLPY PRARARLPRD CTRVRAGNRE
70 80 90 100 110 120
HESWPPPPAT PGAGGLAVRT FVSHFRDRAV AGHLTRAVEP LRTFSVLEPG GPGGCAARRR
130 140 150 160 170 180
ATVEETARAA DCRVAQNGGF FRMNSGECLG NVVSDERRVS SSGGLQNAQF GIRRDGTLVT
190 200 210 220 230 240
GYLSEEEVLD TENPFVQLLS GVVWLIRNGS IYINESQATE CDETQETGSF SKFVNVISAR
250 260 270 280 290 300
TAIGHDRKGQ LVLFHADGQT EQRGINLWEM AEFLLKQDVV NAINLDGGGS ATFVLNGTLA
310 320 330 340 350 360
SYPSDHCQDN MWRCPRQVST VVCVHEPRCQ PPDCHGHGTC VDGHCQCTGH FWRGPGCDEL
370 380 390 400 410 420
DCGPSNCSQH GLCTETGCRC DAGWTGSNCS EECPLGWHGP GCQRPCKCEH HCPCDPKTGN
430 440 450 460 470 480
CSVSRVKQCL QPPEATLRAG ELSFFTRTAW LALTLALAFL LLISTAANLS LLLSRAERNR
490 500 510
RLHGDYAYHP LQEMNGEPLA AEKEQPGGAH NPFKD