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 Q6NUM6

Entry ID Method Resolution Chain Position Source
AF-Q6NUM6-F1 Predicted AlphaFoldDB

606 variants for Q6NUM6

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1554481550
CA367712874
2 D>E No ClinGen
gnomAD
rs782579642
CA4283018
2 D>H No ClinGen
ExAC
gnomAD
CA4283017
rs782579642
2 D>N No ClinGen
ExAC
gnomAD
CA4282991
rs376108043
5 A>V No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs782109332
CA4282989
7 T>A No ClinGen
ExAC
gnomAD
CA4282988
rs73131518
7 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4282990
rs782109332
7 T>P No ClinGen
ExAC
gnomAD
CA160013810
rs754323800
8 W>* No ClinGen
gnomAD
CA367712844
rs1554481543
8 W>R No ClinGen
TOPMed
CA367712827
rs1554481540
10 L>F No ClinGen
gnomAD
CA4282984
rs782367455
11 S>F No ClinGen
ExAC
gnomAD
rs1554481532
CA367712816
12 S>A No ClinGen
gnomAD
CA4282981
rs781819204
14 L>G No ClinGen
ExAC
CA4282979
rs536185667
15 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4282977
rs782292598
16 S>L No ClinGen
ExAC
gnomAD
rs782384362
CA4282978
16 S>P No ClinGen
ExAC
gnomAD
CA4282972
rs782322103
19 I>T No ClinGen
ExAC
gnomAD
CA4282971
rs782184025
21 R>S No ClinGen
ExAC
gnomAD
CA367712752
rs1554481517
22 F>L No ClinGen
gnomAD
CA367712751
rs1554481517
22 F>V No ClinGen
gnomAD
rs782601748
CA4282970
23 Y>S No ClinGen
ExAC
gnomAD
rs782520278
CA4282969
24 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA367712728
rs1183161997
25 Y>C No ClinGen
TOPMed
gnomAD
CA4282968
rs142535243
27 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4282967
rs142535243
27 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA367712716
rs1554481510
27 G>V No ClinGen
gnomAD
CA4282966
rs782540464
28 F>I No ClinGen
ExAC
gnomAD
CA367712639
rs1554481504
38 V>G No ClinGen
gnomAD
rs781802582
CA4282965
38 V>I No ClinGen
ExAC
gnomAD
rs547214941
CA4282964
40 I>M No ClinGen
1000Genomes
ExAC
gnomAD
rs374751967
CA4282963
41 V>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367712623
rs1364128010
41 V>L No ClinGen
TOPMed
rs201638072
CA4282961
43 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs782122344
CA4282960
45 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs782001168
CA4282934
46 G>* No ClinGen
ExAC
TOPMed
gnomAD
rs372230414
CA4282933
46 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA4282932
rs184391894
49 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1554479255
CA367711899
49 T>I No ClinGen
gnomAD
CA4282931
rs782015914
51 L>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 52 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367711830
rs1185129844
55 V>I No ClinGen
TOPMed
CA367711814
rs556042271
56 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4282930
rs556042271
56 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781960217
CA4282928
57 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs1554479242
CA367711786
59 D>Y No ClinGen
gnomAD
rs113109533
CA4282923
62 V>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4282924
rs782561173
62 V>L No ClinGen
ExAC
gnomAD
CA4282921
rs551443078
63 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4282920
rs781842289
65 I>M No ClinGen
ExAC
gnomAD
rs1414773338
CA367711712
65 I>V No ClinGen
TOPMed
rs782723471
CA4282919
66 N>S No ClinGen
ExAC
gnomAD
rs533050338
CA4282918
67 L>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA367711677
rs533050338
67 L>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1554479229
CA367711682
67 L>V No ClinGen
gnomAD
CA160010099
rs777397387
69 E>* No ClinGen
Ensembl
CA4282917
rs781901924
70 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA4282916
rs782796093
72 P>L No ClinGen
ExAC
gnomAD
rs782062822
CA4282915
73 D>G No ClinGen
ExAC
gnomAD
CA4282914
rs781782971
75 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1348889719
CA367711535
77 I>T No ClinGen
TOPMed
CA4282913
rs782743220
79 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA367711394
rs1211738519
80 V>A No ClinGen
TOPMed
gnomAD
rs376640324
CA4282896
82 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782119090
CA4282895
83 K>* No ClinGen
ExAC
gnomAD
CA367711378
rs782119090
83 K>E No ClinGen
ExAC
gnomAD
rs1554477970
CA367711371
84 N>D No ClinGen
gnomAD
CA367711360
rs1187396264
85 V>A No ClinGen
TOPMed
rs1554477967
CA367711353
86 C>S No ClinGen
gnomAD
CA367711344
rs1554477962
88 F>I No ClinGen
gnomAD
CA4282893
rs781906069
88 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA160008414
rs200973019
88 F>S No ClinGen
TOPMed
rs1554477959
CA367711337
89 L>V No ClinGen
gnomAD
CA4282892
rs373659186
91 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1563102352
CA915483983
93 Y>* No ClinGen
Ensembl
rs1554477950
CA367711307
94 T>A No ClinGen
gnomAD
CA367711298
rs1324394715
95 D>G No ClinGen
TOPMed
rs782414363
CA4282886
96 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782007195
CA4282887
96 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs782414363
CA367711291
96 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs782270162
CA367711281
98 P>Q No ClinGen
ExAC
gnomAD
rs782270162
CA4282885
98 P>R No ClinGen
ExAC
gnomAD
rs782574708
CA4282884
99 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA367711276
rs1554477934
99 T>I No ClinGen
gnomAD
rs782217657
CA4282882
100 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs372002786
CA4282880
101 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs372002786
CA4282879
101 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs372002786
CA4282881
101 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA367711243
rs782535675
104 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA4282877
rs782535675
104 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA4282876
rs549041845
107 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs782691551
CA4282875
108 W>* No ClinGen
ExAC
gnomAD
rs782496911
CA4282874
108 W>C No ClinGen
ExAC
gnomAD
CA4282872
rs782780891
109 L>F No ClinGen
ExAC
gnomAD
rs781826720
CA4282873
109 L>I No ClinGen
ExAC
CA367711186
rs1259016778
112 A>G No ClinGen
TOPMed
gnomAD
rs1259016778
CA367711185
112 A>V No ClinGen
TOPMed
gnomAD
CA367711176
rs1554477915
114 I>F No ClinGen
gnomAD
rs782017364
CA4282870
114 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA4282869
rs782726565
117 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA4282868
rs782046046
117 R>L No ClinGen
ExAC
gnomAD
CA4282867
rs527369175
118 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA367711144
rs1163259955
119 G>C No ClinGen
TOPMed
rs1554477901
CA367711139
120 K>E No ClinGen
gnomAD
CA367711109
rs1554477897
124 K>R No ClinGen
gnomAD
CA367711110
rs1554477897
124 K>T No ClinGen
gnomAD
CA4282865
rs782260099
125 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA4282863
rs112022599
126 M>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4282864
rs781978020
126 M>T No ClinGen
ExAC
gnomAD
CA367711099
rs1554477895
126 M>V No ClinGen
gnomAD
rs782284907
CA367711083
128 D>A No ClinGen
ExAC
gnomAD
CA4282862
rs782284907
128 D>G No ClinGen
ExAC
gnomAD
CA367711085
rs1158540242
128 D>H No ClinGen
TOPMed
gnomAD
CA367711084
rs1158540242
128 D>Y No ClinGen
TOPMed
gnomAD
CA367711079
rs1554477891
129 A>T No ClinGen
gnomAD
rs116226916
CA4282861
129 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA367711072
rs1586001821
130 V>L No ClinGen
Ensembl
CA367711056
rs533168112
132 G>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs533168112
CA4282858
132 G>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs782515973
CA4282857
133 L>R No ClinGen
ExAC
gnomAD
rs1586001811
CA367711048
134 G>E No ClinGen
Ensembl
CA160008129
rs759983441
135 N>D No ClinGen
TOPMed
rs782793123
CA4282855
136 S>C No ClinGen
ExAC
gnomAD
rs782453388
CA4282854
138 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs550856466
CA4282852
139 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1554477867
CA367711014
140 S>G No ClinGen
gnomAD
CA4282851
rs782073009
140 S>N No ClinGen
ExAC
gnomAD
rs1554477865
CA367711003
141 H>L No ClinGen
gnomAD
rs782771269
CA4282849
143 N>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel
rs529219067
CA4282848
144 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs376698211
CA160023596
145 V>A No ClinGen
ESP
TOPMed
gnomAD
CA4282824
rs146105977
145 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781801354
CA4282823
146 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA4282822
rs782231454
146 G>D No ClinGen
ExAC
gnomAD
CA4282821
rs535869985
147 K>R No ClinGen
1000Genomes
ExAC
gnomAD
CA367712563
rs1404128571
148 N>T No ClinGen
TOPMed
CA367712548
rs1554477013
150 D>G No ClinGen
gnomAD
CA367712529
rs1342258073
152 W>* No ClinGen
TOPMed
gnomAD
rs782237031
CA4282819
153 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1554477003
CA367712521
154 W>R No ClinGen
gnomAD
rs782550663
CA4282817
156 L>H No ClinGen
ExAC
TOPMed
gnomAD
rs782550663
CA4282818
156 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA4282815
rs535173722
158 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4282814
rs370126013
159 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4282813
rs201902056
160 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4282812
rs375458552
160 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201902056
CA367712482
160 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1195113834
CA367712472
CA367712470
162 M>L No ClinGen
TOPMed
gnomAD
CA4282811
rs531094097
164 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs531094097
CA367712455
164 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781907760
CA4282810
164 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs563662474
CA160023518
CA4282809
165 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA367712447
rs1554476970
166 E>Q No ClinGen
gnomAD
CA4282807
rs781966416
167 G>D No ClinGen
ExAC
gnomAD
rs782049001
CA4282808
167 G>R No ClinGen
ExAC
gnomAD
CA4282804
rs547750453
168 D>G No ClinGen
1000Genomes
ExAC
gnomAD
rs782126507
CA4282805
168 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs547750453
CA367712433
168 D>V No ClinGen
1000Genomes
ExAC
gnomAD
CA367712435
rs782126507
168 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA4282802
rs372474886
170 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367926389
CA4282800
171 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1284319524
CA367712406
172 V>G No ClinGen
TOPMed
CA4282799
rs782232724
172 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA4282798
rs782609925
173 K>E No ClinGen
ExAC
gnomAD
CA4282797
rs782247210
176 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs782550288
CA4282794
177 G>D No ClinGen
ExAC
gnomAD
rs782687265
CA4282795
177 G>S No ClinGen
ExAC
gnomAD
rs782758806
CA4282792
179 I>M No ClinGen
ExAC
gnomAD
rs376927077
CA4282793
179 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1290035215
CA367712362
179 I>V No ClinGen
TOPMed
gnomAD
rs1585998972
CA367712346
181 A>G No ClinGen
Ensembl
CA4282791
rs782463070
182 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA4282790
rs371606288
182 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1554476928
CA367712338
183 F>I No ClinGen
gnomAD
TCGA novel 183 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4282789
rs782754416
185 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA367712301
rs1238185446
188 T>P No ClinGen
TOPMed
CA4282787
rs782015691
189 K>E No ClinGen
ExAC
gnomAD
rs1585998915
CA367712286
190 F>V No ClinGen
Ensembl
CA4282785
rs782055508
191 I>S No ClinGen
ExAC
TOPMed
gnomAD
rs782055508
CA4282784
191 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs781973351
CA4282783
192 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA4282782
rs782348774
193 Q>* No ClinGen
ExAC
gnomAD
rs1554476907
CA367712260
194 L>P No ClinGen
gnomAD
CA367712258
rs1381875309
195 Q>* No ClinGen
TOPMed
TCGA novel 196 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1440103838
CA367712236
198 Q>* No ClinGen
TOPMed
gnomAD
CA367712234
rs1554476901
198 Q>R No ClinGen
gnomAD
CA367712230
rs1554476899
199 K>Q No ClinGen
gnomAD
rs782423058
CA4282779
202 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA367712200
rs1554476890
203 K>* No ClinGen
gnomAD
CA367712198
rs1416150484
203 K>R No ClinGen
TOPMed
CA367712181
rs868942800
205 S>F No ClinGen
Ensembl
CA160023283
rs367840847
208 G>D No ClinGen
ESP
TOPMed
CA367712165
rs1449924689
208 G>S No ClinGen
TOPMed
gnomAD
rs1379510545
CA367712157
209 H>R No ClinGen
TOPMed
CA367712144
rs1240174559
211 K>E No ClinGen
TOPMed
rs782476993
CA4282776
211 K>R No ClinGen
ExAC
gnomAD
rs1279392938
CA367712132
212 K>N No ClinGen
TOPMed
gnomAD
rs1349149703
CA367712127
213 G>D No ClinGen
TOPMed
rs782208674
CA4282775
215 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA4282773
rs782505041
217 S>C No ClinGen
ExAC
rs781896593
CA4282772
218 H>Y No ClinGen
ExAC
gnomAD
rs1460939630
CA367712081
220 H>N No ClinGen
TOPMed
CA367712077
rs1554476875
220 H>R No ClinGen
gnomAD
CA367712070
rs1201954713
221 G>A No ClinGen
TOPMed
gnomAD
rs1201954713
CA367712071
221 G>D No ClinGen
TOPMed
gnomAD
CA4282770
rs782451575
221 G>S No ClinGen
ExAC
gnomAD
rs781799237
CA4282769
224 E>Q No ClinGen
ExAC
gnomAD
rs1554476866
CA367712034
226 E>D No ClinGen
gnomAD
rs1240296337
CA367712040
226 E>K No ClinGen
TOPMed
gnomAD
rs1458414756
CA367712028
227 E>G No ClinGen
TOPMed
CA4282768
rs782767076
228 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs782086272
CA4282766
230 Q>H No ClinGen
ExAC
gnomAD
rs782009089
CA4282765
231 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA367712006
rs782009089
231 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA4282764
rs782754152
232 Q>* No ClinGen
ExAC
gnomAD
rs782020340
CA4282762
233 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs782331205
CA4282761
234 E>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782098315
CA4282760
234 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs782331205
CA367711985
234 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781947108
CA4282759
236 H>Y No ClinGen
ExAC
gnomAD
rs782240448
CA4282757
237 H>L No ClinGen
ExAC
gnomAD
rs782240448
CA367711962
237 H>R No ClinGen
ExAC
gnomAD
CA4282758
rs782393455
237 H>Y No ClinGen
ExAC
gnomAD
rs370976921
CA160023177
238 R>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4282756
rs370976921
238 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA367711957
rs1390522161
238 R>I No ClinGen
TOPMed
rs782195388
CA4282754
240 T>S No ClinGen
ExAC
gnomAD
rs1554476838
CA367711940
241 K>E No ClinGen
gnomAD
rs1554476837
CA367711936
241 K>R No ClinGen
gnomAD
CA4282737
rs782235887
242 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs1554476003
CA367711889
242 E>K No ClinGen
gnomAD
CA4282735
rs782394287
243 E>K No ClinGen
ExAC
gnomAD
TCGA novel 243 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs570707296
CA4282734
244 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs782533916
CA4282733
245 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA4282732
rs782533916
245 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs782464500
CA4282729
247 E>K No ClinGen
ExAC
gnomAD
rs782464500
CA367711818
247 E>Q No ClinGen
ExAC
gnomAD
CA4282728
rs781870157
248 S>T No ClinGen
ExAC
gnomAD
CA4282727
rs782757257
250 S>R No ClinGen
ExAC
gnomAD
CA4282723
rs782044108
251 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs782726333
CA4282724
251 E>G No ClinGen
ExAC
gnomAD
CA4282725
rs781885537
251 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4282722
rs537327533
252 E>G No ClinGen
1000Genomes
ExAC
gnomAD
rs1554475978
CA367711756
252 E>K No ClinGen
gnomAD
CA367711704
rs1554475968
256 G>S No ClinGen
gnomAD
CA367711664
rs782136476
259 H>N No ClinGen
ExAC
TOPMed
gnomAD
CA367711660
rs1554475960
259 H>R No ClinGen
gnomAD
CA4282719
rs782136476
259 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs781989509
CA4282718
261 S>G No ClinGen
ExAC
gnomAD
CA4282716
rs782280364
265 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1278746526
CA367711560
267 D>A No ClinGen
TOPMed
gnomAD
rs1374506024
CA367711553
267 D>E No ClinGen
TOPMed
CA4282714
rs782314943
269 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA367711509
rs1554475942
271 L>V No ClinGen
gnomAD
CA367711467
rs1304121394
275 M>T No ClinGen
TOPMed
CA367711462
rs1346490471
276 D>H No ClinGen
TOPMed
gnomAD
rs782497924
CA4282711
278 V>M No ClinGen
ExAC
gnomAD
rs1274665949
CA367711418
281 E>D No ClinGen
TOPMed
CA4282710
rs782288987
282 K>N No ClinGen
ExAC
gnomAD
rs782379557
CA4282697
283 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA160014953
rs782685376
289 E>K No ClinGen
gnomAD
rs1296855631
CA367710890
293 G>D No ClinGen
TOPMed
rs201632568
CA4282691
295 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA4282690
rs782566996
297 N>D No ClinGen
ExAC
TOPMed
CA367710850
rs1554470776
299 G>R No ClinGen
gnomAD
CA4282689
rs782485010
302 E>D No ClinGen
ExAC
gnomAD
CA367710812
rs1554470770
304 G>D No ClinGen
TOPMed
CA4282688
rs782205473
304 G>R No ClinGen
ExAC
gnomAD
CA367710792
rs1490570750
307 R>K No ClinGen
TOPMed
rs782661582
CA367710788
307 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA4282685
rs373122167
309 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs572381996
CA4282684
310 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4282683
rs782463490
311 T>I No ClinGen
ExAC
gnomAD
CA367710765
rs1554470759
311 T>S No ClinGen
gnomAD
rs553900797
CA4282682
312 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA160014896
rs765223797
313 A>D No ClinGen
gnomAD
CA367710754
rs765223797
313 A>G No ClinGen
gnomAD
rs1166289096
CA367710750
314 L>F No ClinGen
TOPMed
CA4282681
rs539087501
315 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA367710745
rs1554470748
315 R>Q No ClinGen
gnomAD
rs782125271
CA4282680
319 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1554470734
CA367710702
321 Q>H No ClinGen
gnomAD
CA4282660
rs781881258
323 D>N No ClinGen
ExAC
gnomAD
rs1301335559
CA367710649
325 P>A No ClinGen
TOPMed
gnomAD
rs782700183
CA4282659
325 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1301335559
CA367710648
325 P>S No ClinGen
TOPMed
gnomAD
rs781841676
CA4282657
328 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs1479513049
CA367710623
329 S>G No ClinGen
TOPMed
gnomAD
rs1554463235
CA367710618
329 S>R No ClinGen
gnomAD
rs1211379015
CA367710600
332 Q>* No ClinGen
TOPMed
gnomAD
TCGA novel 332 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367710593
rs1554463225
333 T>A No ClinGen
gnomAD
rs781987940
CA367710580
335 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA4282654
rs781987940
335 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs1554463211
CA367710577
335 I>T No ClinGen
gnomAD
CA4282653
rs781987940
335 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1554463202
CA367710572
336 L>P No ClinGen
gnomAD
CA4282652
rs782435864
337 W>R No ClinGen
ExAC
TOPMed
gnomAD
rs1585948851
CA367710556
338 N>K No ClinGen
Ensembl
rs1585948846
CA367710551
339 E>A No ClinGen
Ensembl
TCGA novel 339 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1449709589
CA367710542
340 S>N No ClinGen
TOPMed
CA4282651
rs782144257
342 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs781946271
CA4282650
342 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA367710514
rs1295642649
344 M>T No ClinGen
TOPMed
gnomAD
CA4282648
rs782237838
345 E>K No ClinGen
ExAC
rs1554463173
CA367710489
348 P>A No ClinGen
gnomAD
rs782604845
CA4282647
348 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs782291559
CA4282644
350 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA367710471
rs1367384635
351 A>T No ClinGen
TOPMed
rs782650215
CA4282643
351 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781789516
CA4282641
353 A>T No ClinGen
ExAC
gnomAD
CA367710453
rs782625699
354 N>D No ClinGen
ExAC
gnomAD
CA4282640
rs782625699
354 N>H No ClinGen
ExAC
gnomAD
CA160002854
rs781845199
355 K>E No ClinGen
Ensembl
rs1295175674
CA367710444
355 K>T No ClinGen
TOPMed
rs1246791651
CA367710434
356 C>* No ClinGen
TOPMed
gnomAD
rs782461069
CA4282639
356 C>R No ClinGen
ExAC
TOPMed
gnomAD
CA367710425
rs1467978611
358 F>L No ClinGen
TOPMed
CA367710426
rs1467978611
358 F>V No ClinGen
TOPMed
rs1554463118
CA367710414
359 C>* No ClinGen
gnomAD
CA367710415
rs782767508
359 C>F No ClinGen
ExAC
TOPMed
gnomAD
rs781872590
CA367710417
359 C>R No ClinGen
ExAC
gnomAD
rs781872590
CA4282638
359 C>S No ClinGen
ExAC
gnomAD
CA4282637
rs782767508
359 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA4282635
rs781892655
360 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs782708042
CA4282634
360 W>C No ClinGen
ExAC
TOPMed
gnomAD
rs781892655
CA4282636
360 W>L No ClinGen
ExAC
TOPMed
gnomAD
CA4282633
rs2687015
361 W>R No ClinGen
ExAC
TOPMed
gnomAD
CA367993582
rs781877106
362 H>Q No ClinGen
ExAC
gnomAD
CA4282616
rs782468726
362 H>Y No ClinGen
ExAC
gnomAD
CA160858833
rs781988434
363 H>L No ClinGen
gnomAD
CA4282614
rs782796977
363 H>Q No ClinGen
ExAC
gnomAD
rs781988434
CA160858834
363 H>R No ClinGen
gnomAD
CA367993572
rs1482974032
364 N>S No ClinGen
TOPMed
gnomAD
rs1585935577
CA367993562
365 N>I No ClinGen
Ensembl
CA367993561
rs1554459278
365 N>K No ClinGen
gnomAD
CA367993564
rs1585935577
365 N>T No ClinGen
Ensembl
CA4282613
rs782145020
366 P>S No ClinGen
ExAC
gnomAD
rs1554459274
CA367993552
367 V>L No ClinGen
gnomAD
CA367993554
rs1554459274
367 V>M No ClinGen
gnomAD
CA367993541
rs1554459271
369 T>P No ClinGen
gnomAD
CA4282610
rs117110249
372 L>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA918041537
rs386714630
372 L>R No ClinGen
Ensembl
rs117110249
CA160858830
372 L>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs3015858
CA160858826
373 W>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1585935515 373 W>G No Ensembl
rs3015858 373 W>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA367993510
rs1554459261
CA367993509
374 K>N No ClinGen
TOPMed
gnomAD
rs1554459258
CA367993505
375 M>K No ClinGen
gnomAD
CA4282606
rs181240185
376 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs541797116
CA4282607
376 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs782493809
CA4282602
380 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs782569173
CA4282603
380 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1373672981
CA367993430
385 A>S No ClinGen
TOPMed
rs1373672981
CA367993432
385 A>T No ClinGen
TOPMed
CA4282600
rs782218675
386 I>V No ClinGen
ExAC
gnomAD
CA4282599
rs782645473
388 N>D No ClinGen
ExAC
gnomAD
rs149581454
CA4282598
389 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA367993396
rs868931549
390 Q>* No ClinGen
Ensembl
CA4282597
rs781879625
392 M>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 392 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4282596
rs782581740
395 Q>* No ClinGen
ExAC
gnomAD
CA367993359
rs782581740
395 Q>K No ClinGen
ExAC
gnomAD
CA4282595
rs531276126
396 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA4282594
rs781832946
397 K>E No ClinGen
ExAC
gnomAD
rs146095374
CA367992626
398 G>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA367993338
rs1554459237
398 G>R No ClinGen
gnomAD
rs146095374
CA4282580
398 G>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4282578
rs199848825
400 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs199848825
CA160858131
400 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA160858132
rs200621587
400 P>T No ClinGen
Ensembl
CA367992609
rs565333577
402 V>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4282575
rs565333577
402 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781887770
CA4282573
405 E>G No ClinGen
ExAC
gnomAD
CA4282574
rs547030047
405 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs782046369
CA4282571
406 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs782046369
CA367992584
406 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA4282570
rs781843856
406 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs532191787
CA4282569
412 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4282568
rs532191787
412 T>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs782061374
CA4282565
416 C>Y No ClinGen
ExAC
gnomAD
rs782350607
CA4282563
418 L>F No ClinGen
ExAC
CA367992492
rs1218800867
419 S>C No ClinGen
TOPMed
rs782201165
CA4282562
420 L>P No ClinGen
ExAC
gnomAD
rs782374967
CA4282560
421 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4282559
rs782293727
422 G>A No ClinGen
ExAC
gnomAD
rs782663981
CA4282558
425 I>M No ClinGen
ExAC
gnomAD
CA160858130
rs571257336
425 I>V No ClinGen
1000Genomes
rs782450869
CA4282557
426 M>T No ClinGen
ExAC
gnomAD
CA4282556
rs782610465
427 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA367992437
rs1554455299
428 P>L No ClinGen
gnomAD
rs782483575
CA4282554
429 E>Q No ClinGen
ExAC
gnomAD
rs371891315
CA4282553
430 I>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 432 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367992406
rs1244986859
433 F>V No ClinGen
TOPMed
CA4282551
rs782556917
438 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs781800095
CA4282550
439 Q>* No ClinGen
ExAC
gnomAD
CA4282549
rs782698910
440 C>Y No ClinGen
ExAC
gnomAD
CA4282548
rs782091047
443 S>F No ClinGen
ExAC
gnomAD
CA367992316
rs1422691044
446 L>V No ClinGen
TOPMed
gnomAD
CA4282545
rs782114238
447 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA367992295
rs1391361575
449 N>K No ClinGen
TOPMed
gnomAD
rs782036102
CA4282544
449 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs782407348
CA367992262
453 P>H No ClinGen
ExAC
gnomAD
CA4282543
rs782407348
453 P>L No ClinGen
ExAC
gnomAD
CA4282542
rs180988100
454 A>V No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 455 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 457 R>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367991520
rs1375894253
457 R>S No ClinGen
TOPMed
gnomAD
rs782611861
CA4282514
458 N>D No ClinGen
ExAC
gnomAD
rs782337617
CA4282513
458 N>K No ClinGen
ExAC
CA367991516
rs1585908805
458 N>T No ClinGen
Ensembl
rs782258231
CA4282512
459 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs782541665
CA4282510
460 E>* No ClinGen
ExAC
gnomAD
CA4282509
rs781887399
461 P>R No ClinGen
ExAC
gnomAD
rs1351727629
CA367991497
461 P>S No ClinGen
TOPMed
rs374287825
CA4282507
462 V>I No ClinGen
ESP
ExAC
TOPMed
CA367991477
rs1278505283
464 Q>H No ClinGen
TOPMed
rs761231834
CA4282505
466 Y>C No ClinGen
ExAC
gnomAD
rs1554451142
CA367991463
467 V>I No ClinGen
gnomAD
CA4282504
rs782136742
468 S>I No ClinGen
ExAC
gnomAD
CA367991440
rs1554451139
470 D>G No ClinGen
gnomAD
CA4282503
rs370356685
471 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1222610881
CA367991431
472 S>G No ClinGen
TOPMed
rs1281107025
CA367991428
472 S>N No ClinGen
TOPMed
gnomAD
rs1554451129
CA367991418
473 T>I No ClinGen
gnomAD
CA367991400
rs1349089093
476 S>G No ClinGen
TOPMed
CA367991370
rs1255681717
480 I>T No ClinGen
TOPMed
rs782820408
CA4282502
480 I>V No ClinGen
ExAC
TOPMed
CA160857215
rs782592841
481 D>N No ClinGen
TOPMed
gnomAD
CA4282499
rs781946026
481 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA4282497
rs782077327
482 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA4282496
rs781996061
482 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1554451106
CA367991346
484 L>R No ClinGen
gnomAD
CA367991349
rs1554451109
484 L>V No ClinGen
gnomAD
CA367991336
rs1554451101
486 K>Q No ClinGen
gnomAD
CA367991332
rs1554451100
486 K>R No ClinGen
gnomAD
rs1554451095
CA367991307
489 W>* No ClinGen
gnomAD
CA4282492
rs782654345
489 W>R No ClinGen
ExAC
gnomAD
CA367991301
rs1410250825
490 Q>R No ClinGen
TOPMed
rs1327575833
CA367991296
491 Q>K No ClinGen
TOPMed
gnomAD
CA367991292
rs1333500049
491 Q>R No ClinGen
TOPMed
gnomAD
CA4282489
rs782627197
494 D>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA367991244
rs1440595322
498 A>S No ClinGen
TOPMed
gnomAD
CA367991243
rs1440595322
498 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA367991229
rs1306275500
500 A>S No ClinGen
TOPMed
CA4282487
rs782474383
500 A>V No ClinGen
ExAC
gnomAD
rs1554451079
CA367991226
501 V>I No ClinGen
gnomAD
rs563545212
CA4282485
502 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 502 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1158788100
CA367991181
504 Q>* No ClinGen
TOPMed
CA160854128
rs766040186
505 R>* No ClinGen
TOPMed
gnomAD
CA4282467
rs528347907
505 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs879981057
CA367991168
506 T>S No ClinGen
gnomAD
rs1554439411
CA367991155
508 Y>C No ClinGen
gnomAD
rs1554439414
CA367991158
508 Y>D No ClinGen
gnomAD
rs1554439407
CA367991152
509 R>G No ClinGen
gnomAD
rs1281229403
CA367991135
511 M>I No ClinGen
TOPMed
rs28535321
CA367991137
511 M>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4282466
rs28535321
511 M>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199818733
CA160854127
513 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4282464
rs199818733
513 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 514 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367991102
rs1349751096
516 W>* No ClinGen
TOPMed
rs1279154771
CA367991091
518 V>M No ClinGen
TOPMed
gnomAD
rs782699835
CA367991078
519 D>E No ClinGen
ExAC
gnomAD
CA4282458
rs782097585
520 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA367991068
rs1183274336
521 L>F No ClinGen
TOPMed
gnomAD
CA4282457
rs781952818
521 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs1563036907
CA367991063
522 Q>* No ClinGen
Ensembl
CA367991059
rs1470771218
522 Q>H No ClinGen
TOPMed
gnomAD
CA367991044
rs372077121
524 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4282454
rs193229651
525 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs368655650
CA4282453
525 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA367991023
rs1441447026
528 V>L No ClinGen
TOPMed
gnomAD
CA367991025
rs1441447026
528 V>M No ClinGen
TOPMed
gnomAD
CA367991007
rs782620149
531 G>R No ClinGen
ExAC
gnomAD
CA4282448
rs782620149
531 G>W No ClinGen
ExAC
gnomAD
CA367990998
rs1554439342
532 N>I No ClinGen
gnomAD
CA4282446
rs782276717
533 P>L No ClinGen
ExAC
gnomAD
rs1302251611
CA367990980
535 F>V No ClinGen
TOPMed
rs1554439336
CA367990972
536 I>F No ClinGen
gnomAD
CA367990968
rs1342354253
536 I>M No ClinGen
TOPMed
gnomAD
CA367990965
rs1197060822
537 E>K No ClinGen
TOPMed
gnomAD
CA4282444
rs782435391
538 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs782435391
CA4282443
538 V>E No ClinGen
ExAC
TOPMed
gnomAD
rs1436692434
CA367990950
539 K>M No ClinGen
TOPMed
rs782318142
CA4282429
540 G>D No ClinGen
ExAC
gnomAD
rs782318142
CA4282430
540 G>V No ClinGen
ExAC
gnomAD
CA4282426
rs782342055
541 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA4282427
rs782342055
541 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs782264341
CA4282425
543 Y>D No ClinGen
ExAC
gnomAD
rs1554437012
CA367990914
544 C>R No ClinGen
gnomAD
rs201876441
CA4282424
545 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs201876441
CA4282423
545 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1297151764
CA367990900
546 E>* No ClinGen
TOPMed
rs781889622
CA367990899
546 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs781889622
CA4282422
546 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs782445278
CA4282420
550 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA367990867
rs1554437001
551 S>G No ClinGen
gnomAD
rs1313577110
CA367990858
552 L>F No ClinGen
TOPMed
rs1554436990
CA367990849
553 T>S No ClinGen
gnomAD
CA4282418
rs782736209
554 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs573176711
CA160853603
555 A>P No ClinGen
Ensembl
CA4282416
rs539703149
556 H>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4282417
rs539703149
556 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs782063418
CA4282414
557 V>M No ClinGen
ExAC
gnomAD
rs1554436978
CA367990822
558 P>S No ClinGen
gnomAD
TCGA novel 559 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1554436975
CA367990808
560 H>N No ClinGen
gnomAD
CA4282413
rs112435417
560 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1554436973
CA367990801
561 E>K No ClinGen
gnomAD
rs1484006766
CA367990782
563 V>A No ClinGen
TOPMed
CA367990773
rs1554436971
565 Q>K No ClinGen
gnomAD
CA367990771
rs782083655
565 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs782083655
CA4282411
565 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA4282410
rs782000871
566 F>C No ClinGen
ExAC
gnomAD
rs782375997
CA4282409
566 F>L No ClinGen
ExAC
gnomAD
CA4282407
rs367555373
568 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4282406
rs374889237
568 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs782616380
CA367990749
569 E>* No ClinGen
ExAC
gnomAD
CA367990745
rs371157565
569 E>D No ClinGen
ESP
TOPMed
gnomAD
CA367990751
rs782616380
569 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4282404
rs782616380
569 E>Q No ClinGen
ExAC
gnomAD
rs1554436954
CA367990738
571 V>M No ClinGen
gnomAD
rs531710796
CA4282402
572 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs531710796
CA4282403
572 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs782532987
CA4282400
574 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs782093082
CA4282397
575 P>L No ClinGen
ExAC
gnomAD
CA367990704
rs1554436943
576 E>D No ClinGen
gnomAD
CA4282396
rs781821818
576 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 578 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1554436940
CA367990691
578 E>G No ClinGen
gnomAD
CA4282395
rs782780047
580 A>V No ClinGen
ExAC
gnomAD
CA4282393
rs782038357
581 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs782798588
CA4282392
581 C>Y No ClinGen
ExAC
gnomAD
rs782071422
CA4282391
582 E>G No ClinGen
ExAC
gnomAD
rs1554436929
CA367990658
583 H>R No ClinGen
gnomAD
CA4282389
rs782365190
584 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782365190
CA367990654
584 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA367990643
rs1554436923
585 H>R No ClinGen
gnomAD
CA4282388
rs782216181
586 S>C No ClinGen
ExAC
gnomAD
rs782009016
CA4282387
587 N>S No ClinGen
ExAC
gnomAD
rs782416097
CA4282386
588 C>G No ClinGen
ExAC
gnomAD
rs1554436917
CA367990621
588 C>W No ClinGen
gnomAD
CA367990619
rs782275280
589 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs782275280
CA4282385
589 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs782581605
CA4282384
591 I>L No ClinGen
ExAC
gnomAD
rs782591921
CA4282381
594 R>G No ClinGen
ExAC
gnomAD
CA367990034
rs1201971575
598 I>M No ClinGen
TOPMed
rs782588999
CA4282356
598 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1554428339
CA367990032
599 G>R No ClinGen
gnomAD
rs1224479329
CA367990001
603 W>* No ClinGen
TOPMed
gnomAD
rs782505314
CA367989984
605 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs782505314
CA4282352
605 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA4282353
rs782613762
605 W>R No ClinGen
ExAC
gnomAD
rs200258949
CA367989975
607 D>H No ClinGen
TOPMed
gnomAD
CA160851924
rs200258949
607 D>N No ClinGen
TOPMed
gnomAD
rs1426854771
CA367989971
607 D>V No ClinGen
TOPMed
CA367989974
rs200258949
607 D>Y No ClinGen
TOPMed
gnomAD
rs781861322
CA4282351
608 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA4282349
rs541443405
610 R>C No ClinGen
1000Genomes
ExAC
gnomAD
CA4282348
rs781814988
610 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA4282350
rs541443405
610 R>S No ClinGen
1000Genomes
ExAC
gnomAD
rs782733840
CA4282347
611 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA4282344
rs782385560
614 L>F No ClinGen
ExAC
gnomAD
rs782385560
CA4282345
614 L>I No ClinGen
ExAC
gnomAD
CA367989919
rs1585818524
615 I>T No ClinGen
Ensembl
rs1291190199
CA367989897
618 Y>C No ClinGen
TOPMed
gnomAD
rs782030228
CA4282342
618 Y>D No ClinGen
ExAC
TOPMed
gnomAD
rs782030228
CA367989899
618 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs1291190199
CA367989896
618 Y>S No ClinGen
TOPMed
gnomAD
CA4282341
rs782305098
619 E>K No ClinGen
ExAC
gnomAD
rs1554428310
CA4282337
623 G>A No ClinGen
Ensembl
TCGA novel 623 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4282336
rs782355208
626 T>K No ClinGen
ExAC
gnomAD
CA4282335
rs782355208
626 T>M No ClinGen
ExAC
gnomAD
CA4282330
rs782552126
629 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4282329
rs781795689
631 D>G No ClinGen
ExAC
gnomAD
rs1554428300
CA367989812
631 D>N No ClinGen
gnomAD
CA4282327
rs782485661
633 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs782485661
CA4282328
633 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA367989766
rs1216370291
637 P>L No ClinGen
TOPMed
rs1585818436
CA367989764
638 H>N No ClinGen
Ensembl
rs1243823516
CA367989750
639 W>C No ClinGen
TOPMed
rs1585818413
CA367989726
643 G>R No ClinGen
Ensembl
CA4282325
rs781843092
645 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1554428294
CA367989700
647 R>G No ClinGen
gnomAD
CA4282324
rs782764583
648 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA367989666
rs1243915783
651 P>H No ClinGen
TOPMed
gnomAD
rs782134759
CA4282323
652 K>E No ClinGen
ExAC
gnomAD
CA4282322
rs534463378
653 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA367989645
rs1161977328
654 T>I No ClinGen
TOPMed
gnomAD
rs1554428290
CA367989619
658 R>K No ClinGen
gnomAD
rs1554428289
CA367989615
658 R>S No ClinGen
gnomAD
CA367989604
rs1413488068
660 N>Y No ClinGen
TOPMed
rs1554428288
CA367989586
662 S>* No ClinGen
Ensembl
CA367989577
rs1554428287
663 K>N No ClinGen
gnomAD
CA4282320
rs782818822
665 I>V No ClinGen
ExAC
gnomAD
TCGA novel 666 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1401704328
CA367989555
667 G>E No ClinGen
TOPMed
CA367989541
rs1554428280
669 C>S No ClinGen
gnomAD
rs577012705
CA4282318
669 C>W No ClinGen
1000Genomes
ExAC
gnomAD

No associated diseases with Q6NUM6

6 regional properties for Q6NUM6

Type Name Position InterPro Accession
domain Flavodoxin-like 87 - 98 IPR001094-1
domain Flavodoxin-like 125 - 135 IPR001094-2
domain Flavodoxin-like 150 - 169 IPR001094-3
domain Radical SAM 336 - 580 IPR007197
domain Flavodoxin/nitric oxide synthase 37 - 191 IPR008254
domain tRNA wybutosine-synthesis 531 - 593 IPR013917

Functions

Description
EC Number 4.1.3.44 Oxo-acid-lyases
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

No GO annotations of cellular component

Name Definition
No GO annotations for cellular component

4 GO annotations of molecular function

Name Definition
4 iron, 4 sulfur cluster binding Binding to a 4 iron, 4 sulfur (4Fe-4S) cluster; this cluster consists of four iron atoms, with the inorganic sulfur atoms found between the irons and acting as bridging ligands.
FMN binding Binding to flavin mono nucleotide. Flavin mono nucleotide (FMN) is the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes.
metal ion binding Binding to a metal ion.
tRNA-4-demethylwyosine synthase activity Catalysis of the reaction: pyruvate + S-adenosyl-L-methionine + N1-methylguanine37 in tRNAPhe = L-methionine + 5'-deoxyadenosine + carbon dioxide + H2O + 4-demethylwyosine37 in tRNAPhe.

1 GO annotations of biological process

Name Definition
wybutosine biosynthetic process The chemical reactions and pathways resulting in the formation of wybutosine, 3H-imidazopurine-7-butanoic acid, 4,9-dihydro- alpha-[(methoxycarbonyl)amino]- 4,6-dimethyl-9-oxo- 3-beta-D-ribofuranosyl methyl ester, a modified nucleoside found in some tRNA molecules.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9NV66 TYW1 S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1 Homo sapiens (Human) PR
Q8BJM7 Tyw1 S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1 Mus musculus (Mouse) PR
Q08C92 tyw1 S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MDPSADTWDL SSPLISLWIN RFYIYLGFAV SISLWICVQI VIEMQGFATV LAEAVTSLDL
70 80 90 100 110 120
PVAIINLKEY DPDDHLIEEV TSKNVCVFLV ATYTDGLPTE SAEWFCKWLE EASIDFRFGK
130 140 150 160 170 180
TYLKGMRDAV FGLGNSAYAS HFNKVGKNVD KWLWMLGVHR VMSRGEGDCD VVKSKHGSIE
190 200 210 220 230 240
ANFRAWKTKF ISQLQALQKG ERKKSCGGHC KKGKCESHQH GSEEREEGSQ EQDELHHRDT
250 260 270 280 290 300
KEEEPFESSS EEEFGGEDHQ SLNSIVDVED LGKIMDHVKK EKREKEQQEE KSGLFRNMGR
310 320 330 340 350 360
NEDGERRAMI TPALREALTK QVDAPRERSL LQTHILWNES HRCMETTPSL ACANKCVFCW
370 380 390 400 410 420
WHHNNPVGTE WLWKMDQPEM ILKEAIENHQ NMIKQFKGVP GVKAERFEEG MTVKHCALSL
430 440 450 460 470 480
VGEPIMYPEI NRFLKLLHQC KISSFLVTNA QFPAEIRNLE PVTQLYVSVD ASTKDSLKKI
490 500 510 520 530 540
DRPLFKDFWQ QFLDSLKALA VKQQRTVYRL MLVKAWNVDE LQAYAQLVSL GNPDFIEVKG
550 560 570 580 590 600
VTYCRESSAS SLTMAHVPWH EEVVQFVREL VDLIPEYEIA CEHEHSNCLL IAHRKFKIGG
610 620 630 640 650 660
EWWTWIDYNR FQELIQEYED SGGSKTFSAK DYMARTPHWA LFGANERSFD PKDTRHQRKN
KSKAISGC