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

954-989 (Activation loop from InterPro)

Target domain

593-1077 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

16 structures for Q9NZJ5

Entry ID Method Resolution Chain Position Source
4G31 X-ray 228 A A 588-1093 PDB
4G34 X-ray 270 A A 588-1093 PDB
4M7I X-ray 234 A A 588-1093 PDB
4X7H X-ray 200 A A 575-1094 PDB
4X7J X-ray 230 A A 575-1094 PDB
4X7K X-ray 180 A A 575-1094 PDB
4X7L X-ray 190 A A 575-1094 PDB
4X7N X-ray 235 A A 575-1094 PDB
4X7O X-ray 265 A A 575-1094 PDB
4YZS X-ray 314 A A/B 104-403 PDB
5SV7 X-ray 321 A A/B/C/D 95-420 PDB
7MF0 X-ray 281 A AAA 575-1094 PDB
8EQ9 X-ray 286 A AAA 575-1094 PDB
8EQD X-ray 292 A AAA 575-1094 PDB
8EQE X-ray 256 A AAA 575-1094 PDB
AF-Q9NZJ5-F1 Predicted AlphaFoldDB

813 variants for Q9NZJ5

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV001865223
CA10614598
rs886056419
RCV000403647
5 I>V Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs1045275032
CA51963765
RCV002556982
RCV001140157
18 L>R Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
RCV000173359
RCV001521775
rs1805190
RCV000344451
21 L>missing Wolcott-Rallison dysplasia [ClinVar] Yes ClinVar
dbSNP
RCV000287113
CA10616306
rs886056418
23 L>R Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV001137907
rs1675887917
34 R>H Wolcott-Rallison dysplasia [ClinVar] Yes ClinVar
dbSNP
rs766276341
RCV001174437
RCV002505754
CA1755009
RCV001873639
50 A>V Wolcott-Rallison dysplasia Monogenic diabetes [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs201593811
RCV002277335
RCV000379170
CA238804
RCV000894632
RCV000173360
RCV000664082
52 A>T Connective tissue disorder Wolcott-Rallison dysplasia Monogenic diabetes [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV001856761
rs1675883639
RCV001137906
71 T>I Wolcott-Rallison dysplasia [ClinVar] Yes ClinVar
dbSNP
CA1754990
rs539891019
RCV001137905
RCV001174436
RCV001417472
79 P>L Wolcott-Rallison dysplasia Monogenic diabetes [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV000322169
CA152715
VAR_011409
RCV000116969
rs867529
RCV001516846
136 S>C Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA16609248
RCV000445410
rs1057524886
147 V>G Monogenic diabetes [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_011410
RCV001521774
CA152717
RCV002277158
rs13045
RCV000116970
RCV000283479
166 Q>R Connective tissue disorder Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1003629254
CA51498993
RCV000625664
RCV001855320
168 R>H Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV000349841
CA1754900
RCV002502135
rs200991366
186 Y>H Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001861158
RCV002278523
RCV002523146
RCV000375498
rs147458427
CA1754859
240 R>H Connective tissue disorder Wolcott-Rallison dysplasia Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001142646
CA1754858
rs775353963
246 R>K Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
CA1754828
rs756231274
RCV001174435
278 F>Y Monogenic diabetes [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA1754823
rs765112357
RCV002493793
RCV001348553
RCV002547480
282 T>I Wolcott-Rallison dysplasia Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA1754821
RCV001301631
RCV002499560
rs150474217
286 N>S Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs549674310
RCV002495532
CA1754815
RCV000918179
302 E>D Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
rs191277311
RCV001142644
RCV001857094
RCV001174434
RCV000504087
CA1754809
310 I>L Wolcott-Rallison dysplasia Monogenic diabetes [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs121908570
RCV000006236
CA117826
332 E>* Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs869025178
RCV000006232
346 K>* Wolcott-Rallison dysplasia [ClinVar] Yes ClinVar
dbSNP
RCV001329322
rs1674857627
362 T>I Wolcott-Rallison dysplasia [ClinVar] Yes ClinVar
dbSNP
CA10616305
RCV000318510
rs886056417
364 N>K Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
CA339733
rs864621972
RCV000204196
398 Q>* Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs145427892
RCV001140795
RCV000901896
RCV002279622
CA1754733
422 A>T Connective tissue disorder Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV002493655
rs947983532
RCV001316623
CA51495185
422 A>V Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV001858920
rs200574679
CA1754717
RCV001140794
437 S>Y Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA1754712
RCV001296864
RCV002504437
rs750810139
COSM1471356
COSM255398
457 D>G Wolcott-Rallison dysplasia central_nervous_system prostate [ClinVar, Cosmic] Yes ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001140793
RCV001326864
CA1754678
rs141901506
502 D>N Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001283831
rs1674719462
513 K>missing Wolcott-Rallison dysplasia [ClinVar] Yes ClinVar
dbSNP
rs797045558
RCV002517071
RCV000193530
522 W>missing Wolcott-Rallison dysplasia [ClinVar] Yes ClinVar
dbSNP
rs1558652941
RCV000006235
523 K>* Wolcott-Rallison dysplasia [ClinVar] Yes ClinVar
dbSNP
RCV000368240
rs747376208
CA1754668
RCV001850816
534 I>T Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000311224
RCV001821019
VAR_040477
CA1754624
RCV000664080
RCV000423642
rs55791823
RCV002278521
566 D>V Connective tissue disorder Wolcott-Rallison dysplasia Monogenic diabetes [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001140038
rs1674645367
576 S>R Wolcott-Rallison dysplasia [ClinVar] Yes ClinVar
dbSNP
RCV001339493
rs150314450
RCV000764448
CA1754614
RCV000445365
RCV002279228
584 G>E Connective tissue disorder Wolcott-Rallison dysplasia Monogenic diabetes [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000364989
rs75385605
RCV000116965
CA152708
RCV000664081
RCV000419198
586 I>L Wolcott-Rallison dysplasia Monogenic diabetes [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000006233
CA117825
rs121908569
VAR_011408
588 R>Q Wolcott-Rallison dysplasia Variant assessed as Somatic; impact. WRS [ClinVar, NCI-TCGA, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
NCI-TCGA
dbSNP
RCV001338593
RCV002486354
CA1754583
rs776579341
628 N>S Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000342457
RCV000432671
rs35226268
CA1754539
672 E>K Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000499424
RCV001303458
rs771612567
RCV000303905
CA1754514
688 S>R Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA1754508
RCV000281735
rs780592115
698 R>H Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs189064501
RCV000339055
RCV002519993
CA1754511
698 R>S Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV002476341
RCV000591252
rs781754103
CA1754505
702 P>A Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000116968
CA152713
RCV001521772
VAR_011411
RCV000374096
rs1805165
704 A>S Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA1754499
rs760433148
RCV000335758
712 I>T Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001850815
CA1754480
RCV000278324
rs201662849
746 M>T Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV002505321
RCV000906073
CA1754471
rs777171158
762 Q>H Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV002504428
CA1754465
RCV001294549
rs778904290
RCV002538438
772 E>V Wolcott-Rallison dysplasia Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs374540128
RCV001137797
RCV001348253
CA1754446
823 K>E Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000388427
rs751296708
CA1754441
834 A>T Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000331627
rs200270016
RCV003114497
CA1754439
836 K>I Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1178109063
RCV000995765
CA347589607
RCV002549918
903 R>* Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs1553407942
CA347589356
RCV000503236
920 Q>* Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001142557
rs1674406193
934 M>R Wolcott-Rallison dysplasia [ClinVar] Yes ClinVar
dbSNP
rs759906972
RCV000501577
RCV002496946
CA1754370
975 M>V Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV001142556
rs766524866
CA1754368
979 A>T Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV001329324
rs755369984
1032 T>S Wolcott-Rallison dysplasia [ClinVar] Yes ClinVar
dbSNP
rs1441763585
CA347583810
RCV001142555
1074 N>K Wolcott-Rallison dysplasia [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
CA347763649
rs1455129183
3 R>L No ClinGen
TOPMed
gnomAD
rs1439564564
CA347763643
4 A>G No ClinGen
TOPMed
CA347763637
rs1378858666
5 I>S No ClinGen
TOPMed
rs1432289766
CA347763630
6 S>I No ClinGen
gnomAD
CA347763628
rs780496323
6 S>R No ClinGen
ExAC
gnomAD
CA347763624
rs1038519173
7 P>L No ClinGen
gnomAD
CA51963773
rs1038519173
7 P>R No ClinGen
gnomAD
rs1486401299
CA347763620
8 G>R No ClinGen
gnomAD
CA347763616
rs1573432415
9 L>M No ClinGen
Ensembl
rs1247889487
CA347763613
9 L>P No ClinGen
gnomAD
CA347763610
rs1462706867
10 L>V No ClinGen
gnomAD
rs1232776381
CA347763600
12 R>G No ClinGen
gnomAD
rs756618692
CA1755021
12 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA347763594
rs1216036151
13 A>S No ClinGen
gnomAD
rs1573432370
CA347763586
14 L>P No ClinGen
Ensembl
rs1182739831
CA347763562
19 L>P No ClinGen
gnomAD
CA347763553
rs1399462832
21 L>V No ClinGen
TOPMed
CA347763537
rs1220868165
24 A>P No ClinGen
TOPMed
rs1205554960
CA347763533
24 A>V No ClinGen
gnomAD
rs1457762479
CA347763523
26 R>K No ClinGen
TOPMed
rs1296667678
CA347763520
26 R>S No ClinGen
gnomAD
rs1200915007
CA347763513
28 V>M No ClinGen
gnomAD
CA51963750
rs935323305
29 A>P No ClinGen
TOPMed
gnomAD
CA1755014
rs529920914
29 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA1755012
rs764363291
30 A>T No ClinGen
ExAC
gnomAD
rs1373301967
CA347763481
33 A>V No ClinGen
TOPMed
CA1755011
rs759316192
34 R>S No ClinGen
ExAC
gnomAD
rs1370315159
CA347763473
35 G>D No ClinGen
gnomAD
rs776456569
CA1755010
35 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA347763475
rs776456569
35 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1167045257
CA347763470
36 L>F No ClinGen
gnomAD
CA347763462
rs1317727916
37 P>S No ClinGen
gnomAD
rs886042833
CA10604741
RCV000302079
RCV001820817
38 A>T No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs1388434655
CA347763454
38 A>V No ClinGen
TOPMed
rs1385185104
CA347763448
39 P>L No ClinGen
TOPMed
RCV001327447
rs1675886949
41 A>G No ClinVar
dbSNP
TCGA novel 42 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1187474096
CA347763416
44 A>V No ClinGen
gnomAD
rs1177978428
CA347763386
49 A>E No ClinGen
TOPMed
gnomAD
rs1177978428
CA347763384
49 A>V No ClinGen
TOPMed
gnomAD
rs201593811
CA1755008
52 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1202682565
CA347763366
53 P>A No ClinGen
gnomAD
rs1361346758
CA347763364
53 P>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs905092644
CA51963736
55 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA1755006
rs761352130
56 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA1755005
rs773937986
57 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA347763342
rs773937986
57 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs768354404
CA1755004
58 R>Q No ClinGen
ExAC
gnomAD
rs1407082315
CA347763336
59 V>L No ClinGen
gnomAD
CA347763328
rs1456887978
60 P>R No ClinGen
gnomAD
rs1163180250
CA347763329
60 P>S No ClinGen
gnomAD
rs1249821556
CA347763308
63 G>D No ClinGen
gnomAD
rs1453110315
CA347763307
64 A>T No ClinGen
gnomAD
rs1489098296
CA347763302
64 A>V No ClinGen
TOPMed
rs1209141506
CA347763299
65 V>L No ClinGen
gnomAD
rs746375881
CA1755000
66 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs781620386
CA1754999
67 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA1754998
rs757383379
68 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs565172181
CA1754996
70 V>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1036035211
CA51963723
75 A>T No ClinGen
TOPMed
gnomAD
rs1323254419
CA347763224
77 A>E No ClinGen
gnomAD
rs1001666194
CA51963722
77 A>T No ClinGen
TOPMed
rs1323254419
CA347763222
77 A>V No ClinGen
gnomAD
rs539891019
CA1754991
79 P>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs766230167
CA1754992
79 P>S No ClinGen
ExAC
gnomAD
CA347763202
rs1456764971
81 A>V No ClinGen
gnomAD
CA347763196
rs1478508112
82 A>E No ClinGen
TOPMed
gnomAD
CA347763197
rs1478508112
82 A>G No ClinGen
TOPMed
gnomAD
CA347763199
rs1178813253
82 A>S No ClinGen
gnomAD
CA347763198
rs1478508112
82 A>V No ClinGen
TOPMed
gnomAD
rs1197851445
CA347763179
85 Q>* No ClinGen
gnomAD
rs1422535694
CA347763178
85 Q>P No ClinGen
gnomAD
CA1754987
rs767999139
89 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA1754986
rs767999139
89 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA347763146
rs1249747845
90 P>R No ClinGen
gnomAD
rs770154991
CA1754984
91 E>D No ClinGen
ExAC
gnomAD
rs774936605
CA1754985
91 E>G No ClinGen
ExAC
gnomAD
CA347763127
CA1754983
rs372535313
93 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA51963707
rs896692801
93 D>N No ClinGen
Ensembl
CA51963703
rs1053103909
94 D>E No ClinGen
Ensembl
rs1260850302
CA347763125
94 D>H No ClinGen
TOPMed
rs781713956
CA1754982
95 E>K No ClinGen
ExAC
rs1386816960
CA347763107
96 T>I No ClinGen
TOPMed
gnomAD
CA51963700
rs13034488
97 E>* No ClinGen
Ensembl
TCGA novel 97 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1754980
rs747108159
99 R>Q No ClinGen
ExAC
gnomAD
CA1754979
rs777931916
100 P>R No ClinGen
ExAC
gnomAD
CA347763086
rs1231453856
100 P>S No ClinGen
gnomAD
rs758371991
CA1754978
101 R>H No ClinGen
ExAC
gnomAD
rs1284890385
CA347763072
103 R>G No ClinGen
TOPMed
rs1204800330
CA347762711
103 R>S No ClinGen
gnomAD
rs757041625
COSM289681
CA1754955
104 S>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA347762709
RCV000593171
rs1340497908
104 S>P No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
TCGA novel
CA1754954
rs751527003
106 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
gnomAD
TCGA novel 108 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1754953
rs763921692
108 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA1754952
rs139901728
110 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1411763475
CA347762640
110 T>S No ClinGen
TOPMed
gnomAD
CA347762591
rs1314896894
115 I>V No ClinGen
TOPMed
rs1338949091
CA347762573
116 A>V No ClinGen
TOPMed
CA1754951
rs752117328
117 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA347762522
rs1269205947
122 N>H No ClinGen
TOPMed
COSM3783446
rs1331657578
COSM3783445
CA347762518
122 N>S Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA347762507
rs1307674868
123 H>R No ClinGen
gnomAD
rs1292907531
CA347762492
125 K>E No ClinGen
gnomAD
TCGA novel 128 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV001296860
rs144124418
CA1754950
132 V>M No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs776226805
CA1754948
135 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs867529
CA347762356
136 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs867529
CA347762355
136 S>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 140 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347762308
rs1473288789
141 S>R No ClinGen
gnomAD
CA1754947
rs760891399
143 S>C No ClinGen
ExAC
gnomAD
rs1209761689
CA347596996
148 F>C No ClinGen
TOPMed
gnomAD
TCGA novel 151 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347596970
rs1277977772
152 M>V No ClinGen
TOPMed
gnomAD
rs754542348
CA1754913
157 L>R No ClinGen
ExAC
gnomAD
rs753345227
CA1754912
164 W>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 165 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779799076
CA1754911
165 D>N No ClinGen
ExAC
gnomAD
rs779799076
CA51499019
165 D>Y No ClinGen
ExAC
gnomAD
COSM244223
rs755704498
CA347596875
166 Q>* prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA1754910
rs755704498
166 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA1754909
rs767773902
166 Q>H No ClinGen
ExAC
gnomAD
CA347596873
rs13045
166 Q>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV001319399
CA1754908
rs762206822
168 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs762206822
CA347596862
168 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1003629254
CA347596861
168 R>P No ClinGen
TOPMed
gnomAD
CA51498991
rs1030746890
170 S>G No ClinGen
TOPMed
CA51498989
rs752167830
170 S>N No ClinGen
ExAC
gnomAD
CA1754907
rs752167830
170 S>T No ClinGen
ExAC
gnomAD
rs1174380674
CA347596841
171 M>K No ClinGen
TOPMed
rs1174380674
CA347596843
171 M>R No ClinGen
TOPMed
rs1425626815
CA347596845
171 M>V No ClinGen
gnomAD
rs770372979
CA1754906
173 T>R No ClinGen
ExAC
gnomAD
rs1395927778
CA347596824
174 V>I No ClinGen
TOPMed
rs187776572
CA1754904
177 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1754903
rs769862062
178 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs759708667
CA1754902
179 E>K No ClinGen
ExAC
gnomAD
rs1253714888
CA347596747
186 Y>S No ClinGen
TOPMed
rs145470505
CA1754898
187 K>R No ClinGen
ESP
ExAC
gnomAD
TCGA novel 187 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347596726
rs1394978406
189 G>R No ClinGen
gnomAD
rs1309491307
CA347596702
192 V>D No ClinGen
TOPMed
gnomAD
CA51498920
rs1049632455
192 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1410811524
CA347596698
193 V>F No ClinGen
gnomAD
rs748849019
CA1754896
195 V>F No ClinGen
ExAC
gnomAD
rs779455657
CA1754895
196 G>R No ClinGen
ExAC
gnomAD
CA51498910
rs932283418
201 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA51498905
rs900837802
202 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs780881069
COSM364505
CA1754891
203 Y>C lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1483244464
CA347596621
206 S>R No ClinGen
gnomAD
rs894717636
CA51498847
208 Y>C No ClinGen
TOPMed
gnomAD
CA1754888
rs764744831
208 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA1754887
rs758995400
209 S>G No ClinGen
ExAC
gnomAD
CA347596567
rs745376249
CA1754873
212 V>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
gnomAD
NCI-TCGA
rs745376249
CA347596568
212 V>M No ClinGen
ExAC
gnomAD
CA347596553
rs1327996297
214 Y>C No ClinGen
gnomAD
CA1754872
rs780745612
214 Y>H No ClinGen
ExAC
gnomAD
rs1235805014
CA347596548
215 I>V No ClinGen
gnomAD
CA347596529
rs1227879512
217 S>L No ClinGen
TOPMed
CA51497729
rs1054960475
218 A>T No ClinGen
TOPMed
rs1301153218
CA347596521
219 L>P No ClinGen
gnomAD
TCGA novel 222 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1754869
rs144117387
222 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753157985
CA1754867
224 W>R No ClinGen
ExAC
TOPMed
gnomAD
CA1754865
rs367754154
225 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1754866
rs367754154
225 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1023611
COSM122801
CA1754863
rs766640012
228 E>K upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA347596448
rs1433170972
229 M>I No ClinGen
TOPMed
rs1467388361
CA347596449
229 M>T No ClinGen
gnomAD
TCGA novel 232 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 234 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 235 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763885273
CA1754860
239 Q>H No ClinGen
ExAC
gnomAD
rs906171568
CA51497699
239 Q>K No ClinGen
TOPMed
rs773387179
CA1754861
239 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1253063852
CA347596364
242 Q>* No ClinGen
gnomAD
rs929014046
CA51497692
243 K>N No ClinGen
TOPMed
TCGA novel 244 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1754857
rs769737215
246 R>S No ClinGen
ExAC
gnomAD
COSM3364850
COSM3364851
CA347596321
rs1255725028
249 G>R kidney [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1461250090
CA347596311
250 P>L No ClinGen
TOPMed
gnomAD
rs1262034040
CA347596308
251 R>C No ClinGen
gnomAD
rs558872999
CA1754854
251 R>H No ClinGen
ExAC
gnomAD
CA347596282
rs1225449831
255 E>K No ClinGen
TOPMed
rs774445301
CA51496677
261 V>I No ClinGen
Ensembl
CA347596213
rs1214543954
262 G>V No ClinGen
gnomAD
CA1754836
rs201704351
267 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs773037976
CA1754835
268 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs773037976
CA347596175
268 Y>S No ClinGen
ExAC
TOPMed
gnomAD
rs748516671
CA1754833
269 I>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 271 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347596133
rs1034090328
274 T>A No ClinGen
TOPMed
gnomAD
CA347596130
rs1372248590
RCV001308350
274 T>M No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs1034090328
CA51496640
274 T>S No ClinGen
TOPMed
gnomAD
CA1754831
rs567991599
276 A>P No ClinGen
1000Genomes
ExAC
gnomAD
rs780485346
CA1754829
277 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA1754825
rs757517499
281 S>I No ClinGen
ExAC
gnomAD
rs765112357
CA1754824
282 T>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 283 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1463949493
CA347596077
283 F>V No ClinGen
TOPMed
CA347596029
rs1228905306
289 T>I No ClinGen
gnomAD
CA347596031
rs1228905306
289 T>K No ClinGen
gnomAD
CA347596012
rs1230504276
292 S>T No ClinGen
gnomAD
TCGA novel 293 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1351364166
CA534630083
293 K>V No ClinGen
gnomAD
TCGA novel 294 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1441214040
CA347595987
295 I>T No ClinGen
gnomAD
CA347595983
rs1352633666
296 S>P No ClinGen
gnomAD
rs376125904
CA1754818
297 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772833023
CA1754817
298 V>M No ClinGen
ExAC
CA51496544
rs1014263422
300 E>K No ClinGen
TOPMed
CA1754816
rs771423097
302 E>* No ClinGen
ExAC
gnomAD
rs773831879
CA1754814
303 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs773831879
CA347595936
303 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA347595927
COSM1690778
rs1473338839
COSM1690779
304 A>V Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA1754813
rs769083965
305 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs749626188
CA1754812
306 M>K No ClinGen
ExAC
gnomAD
CA347595916
rs749626188
306 M>R No ClinGen
ExAC
gnomAD
rs1320101113
CA347595899
308 I>M No ClinGen
TOPMed
CA1754811
rs780609524
308 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1468932809
CA347595903
308 I>V No ClinGen
gnomAD
CA1754810
rs770275798
309 V>M No ClinGen
ExAC
gnomAD
rs191277311
CA347595892
310 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781256167
CA1754808
312 V>I No ClinGen
ExAC
gnomAD
CA1754807
rs757246219
313 S>L Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs563686568
CA1754805
314 V>I No ClinGen
1000Genomes
ExAC
gnomAD
rs1222983133
CA347595858
316 D>H No ClinGen
gnomAD
CA347595857
rs1222983133
316 D>N No ClinGen
gnomAD
CA1754804
rs754842136
318 K>R No ClinGen
ExAC
gnomAD
CA347595824
rs1276515547
320 M>T No ClinGen
TOPMed
gnomAD
CA51496481
rs993234315
321 A>E No ClinGen
TOPMed
CA347595802
rs1193957620
323 S>T No ClinGen
TOPMed
rs753681109
CA1754803
326 G>A No ClinGen
ExAC
gnomAD
TCGA novel 327 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1754800
rs370390181
330 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA347595738
rs1157996080
332 E>D No ClinGen
gnomAD
CA1754799
rs121908570
332 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1169209411
CA347595722
334 Q>H No ClinGen
TOPMed
CA347595723
rs1427743527
334 Q>R No ClinGen
gnomAD
CA51496328
rs779996738
339 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA1754782
rs779996738
339 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755930425
CA1754781
341 S>F No ClinGen
ExAC
gnomAD
CA1754779
rs767330545
345 L>F No ClinGen
ExAC
gnomAD
rs200315616
CA1754778
346 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200315616
CA1754777
346 K>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1754776
rs763604716
349 K>E No ClinGen
ExAC
gnomAD
CA347595611
rs1294172310
350 V>I No ClinGen
gnomAD
rs1242428960
CA347595601
351 I>S No ClinGen
TOPMed
CA347595602
rs1242428960
351 I>T No ClinGen
TOPMed
CA347595593
rs1380818081
352 P>L No ClinGen
gnomAD
rs901651363
CA51496306
354 S>R No ClinGen
TOPMed
gnomAD
CA347595576
rs1414546855
355 L>F No ClinGen
gnomAD
rs1374073234
CA347595565
356 F>L No ClinGen
gnomAD
rs1310368926
CA347595544
359 T>R No ClinGen
gnomAD
rs765614263
CA1754773
360 S>N No ClinGen
ExAC
gnomAD
TCGA novel 360 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347595520
rs1425646551
363 S>P No ClinGen
TOPMed
gnomAD
CA347595495
rs1417492130
366 D>V No ClinGen
TOPMed
CA347595491
rs1485204178
367 V>L No ClinGen
gnomAD
rs771337239
CA1754769
369 E>G No ClinGen
ExAC
gnomAD
CA347595477
rs1480894325
369 E>K No ClinGen
TOPMed
gnomAD
TCGA novel 370 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 370 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1201810520
CA347595464
371 E>K No ClinGen
gnomAD
CA51496280
rs535701506
372 E>D No ClinGen
gnomAD
CA1754768
rs760865789
374 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs773177236
CA1754767
375 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1007871504
CA51496270
376 E>A No ClinGen
Ensembl
CA347595423
rs1290556322
377 A>P No ClinGen
gnomAD
rs1290556322
CA347595422
377 A>T No ClinGen
gnomAD
CA1754765
rs748410567
378 A>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 379 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1396329078
CA347595400
380 G>V No ClinGen
gnomAD
rs199822416
CA51496259
382 T>I No ClinGen
1000Genomes
rs199822416
CA347595389
382 T>K No ClinGen
1000Genomes
rs1054339837
CA51496252
386 V>D No ClinGen
TOPMed
rs1159411533
CA347595364
386 V>I No ClinGen
gnomAD
CA1754764
rs779224696
387 Y>N No ClinGen
ExAC
TOPMed
gnomAD
rs1459503137
CA347595345
389 G>R No ClinGen
gnomAD
rs1253554833
CA347595323
390 M>T No ClinGen
gnomAD
CA1754739
rs146469659
392 R>G No ClinGen
ESP
ExAC
gnomAD
rs1674809495
RCV001343812
393 G>D No ClinVar
dbSNP
rs1558654231
CA347595289
395 L>V No ClinGen
Ensembl
CA347595282
rs1259281305
396 Y>C No ClinGen
gnomAD
rs1218098381
CA347595273
397 L>R No ClinGen
TOPMed
rs1349144870
CA347595266
398 Q>H No ClinGen
gnomAD
CA347595261
rs1573404121
399 S>* No ClinGen
Ensembl
rs1438799680
CA347595237
403 I>S No ClinGen
TOPMed
gnomAD
rs1438799680
CA347595235
403 I>T No ClinGen
TOPMed
gnomAD
CA347595221
rs1485843012
405 E>D No ClinGen
TOPMed
rs1558654210
CA347595209
407 F>L No ClinGen
Ensembl
TCGA novel 407 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1319205117
CA347595195
409 S>A No ClinGen
gnomAD
rs777668213
CA1754738
410 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1387484778
CA347595189
410 S>I No ClinGen
TOPMed
CA1754737
rs757943925
411 P>T No ClinGen
ExAC
gnomAD
rs1395595747
CA347595155
415 E>A No ClinGen
gnomAD
CA1754734
rs754599917
417 V>A No ClinGen
ExAC
gnomAD
rs1162535354
CA347595122
420 E>A No ClinGen
TOPMed
rs947983532
CA347595106
422 A>G No ClinGen
TOPMed
gnomAD
rs145427892
CA347595109
422 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1193307627
CA347595104
423 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1446025106
CA347595087
425 P>R No ClinGen
gnomAD
CA51495183
rs868486408
427 P>L No ClinGen
gnomAD
CA51495184
rs866665157
427 P>S No ClinGen
Ensembl
CA1754732
rs766683603
428 T>K No ClinGen
ExAC
gnomAD
rs1486242692
CA347595061
430 K>E No ClinGen
gnomAD
COSM1023607
rs761048614
CA1754731
COSM1023608
436 H>Y Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA1754716
rs754468668
438 P>R No ClinGen
ExAC
gnomAD
rs990293614
CA51494766
440 R>I No ClinGen
gnomAD
CA347594981
rs990293614
440 R>K No ClinGen
gnomAD
rs748913188
CA1754715
442 P>R No ClinGen
ExAC
gnomAD
CA347594967
rs1385654135
443 V>I No ClinGen
TOPMed
CA347594903
rs1292403664
452 K>E No ClinGen
gnomAD
rs149737775
CA51494756
452 K>R No ClinGen
ESP
TOPMed
gnomAD
rs756471929
CA1754713
454 L>P No ClinGen
ExAC
gnomAD
CA347594866
rs1329525666
457 D>N No ClinGen
gnomAD
rs1329525666
RCV001338039
457 D>Y No ClinVar
dbSNP
TCGA novel 458 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 460 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 462 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1387709739
CA347594815
463 E>D No ClinGen
TOPMed
CA347594812
rs1381033306
464 Y>H No ClinGen
TOPMed
CA51494738
rs976327992
465 S>G No ClinGen
TOPMed
CA347594794
rs1383983021
466 N>S No ClinGen
TOPMed
CA347594787
rs1416724116
467 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1461603249
CA347594790
467 G>S No ClinGen
gnomAD
CA1754708
rs764107317
471 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 474 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1233965274
CA347594744
474 Y>H No ClinGen
gnomAD
rs1166606987
CA347594742
474 Y>S No ClinGen
gnomAD
CA51494737
rs966305598
475 P>T No ClinGen
Ensembl
CA1754691
rs147874614
478 N>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1754690
rs745450434
478 N>S No ClinGen
ExAC
CA51493754
rs921135222
479 G>S No ClinGen
gnomAD
rs757649885
CA1754688
481 Y>F No ClinGen
ExAC
gnomAD
CA1754689
rs781716922
481 Y>H No ClinGen
ExAC
gnomAD
CA1754686
rs764632909
483 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1284650063
CA347594668
484 Y>H No ClinGen
gnomAD
rs1223004994
CA347594660
485 Y>D No ClinGen
gnomAD
CA347594638
rs1223494806
488 E>K No ClinGen
gnomAD
rs758476728
CA1754685
489 R>K No ClinGen
ExAC
gnomAD
TCGA novel 492 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA51493742
rs377071401
492 R>Q No ClinGen
gnomAD
rs965316271
CA51493737
494 T>I No ClinGen
TOPMed
rs765173142
CA1754683
495 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA347594570
rs1432389199
498 V>I No ClinGen
TOPMed
gnomAD
rs754018614
CA1754681
499 R>S No ClinGen
ExAC
gnomAD
rs564017955
CA1754680
501 L>P No ClinGen
1000Genomes
ExAC
gnomAD
CA1754677
rs768630246
503 N>D No ClinGen
ExAC
gnomAD
TCGA novel 508 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 509 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762424772
CA1754675
509 N>Y No ClinGen
ExAC
gnomAD
rs1188393423
CA347594477
511 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA347594453
rs1278900422
514 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA1754673
rs769150243
516 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA347594439
rs1487226765
517 L>I No ClinGen
gnomAD
TCGA novel 519 L>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV000722900
rs1558652960
519 L>missing No ClinVar
dbSNP
CA347594426
rs1282347047
519 L>V No ClinGen
gnomAD
TCGA novel 520 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1754672
rs745540061
520 H>Y No ClinGen
ExAC
gnomAD
rs1414649675
CA347594406
521 W>C No ClinGen
TOPMed
TCGA novel 522 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780972290
CA1754671
523 K>N No ClinGen
ExAC
gnomAD
CA347594379
rs1223196466
525 I>V No ClinGen
gnomAD
rs200171164
CA1754669
528 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1398538548
CA347594314
534 I>M No ClinGen
gnomAD
rs778201509
CA1754667
535 A>T No ClinGen
ExAC
gnomAD
CA347594297
rs1434600602
537 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1558652905
CA347594286
539 I>F No ClinGen
Ensembl
rs1034289372
CA51493616
541 R>C No ClinGen
TOPMed
gnomAD
CA1754664
rs758957898
COSM1023604
COSM722931
541 R>H lung Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758957898
CA347594272
541 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1429259695
CA347594271
542 R>G No ClinGen
gnomAD
CA347594265
rs1228918071
542 R>S No ClinGen
TOPMed
CA1754663
rs753078059
543 L>F No ClinGen
ExAC
gnomAD
TCGA novel 544 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 546 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1754662
rs779080859
547 H>Q No ClinGen
ExAC
gnomAD
CA347594234
rs1326776600
547 H>R No ClinGen
TOPMed
rs894772982
CA51493608
547 H>Y No ClinGen
TOPMed
gnomAD
CA1754661
rs755000762
548 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA347594227
rs755000762
548 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs766554136
CA1754659
549 H>D No ClinGen
ExAC
TOPMed
gnomAD
rs766554136
CA1754660
549 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA1754658
rs761661210
550 R>K No ClinGen
ExAC
gnomAD
CA347594216
rs1254187256
550 R>S No ClinGen
gnomAD
TCGA novel 552 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1754633
rs758108455
553 K>E No ClinGen
ExAC
gnomAD
CA51492063
rs113253152
553 K>R No ClinGen
Ensembl
CA347594145
rs1337754799
558 Q>H No ClinGen
TOPMed
rs1307924363
CA347594148
558 Q>R No ClinGen
TOPMed
CA1754631
rs765262030
561 T>I No ClinGen
ExAC
gnomAD
rs752723076
CA1754632
561 T>S No ClinGen
ExAC
gnomAD
rs759175402
CA1754630
563 N>D No ClinGen
ExAC
gnomAD
CA1754629
rs776297256
563 N>T No ClinGen
ExAC
gnomAD
CA347594098
rs1176222628
565 Y>C No ClinGen
gnomAD
rs765922890
CA1754628
565 Y>H No ClinGen
ExAC
gnomAD
rs55791823
CA1754625
566 D>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772689343
CA1754626
566 D>N No ClinGen
ExAC
CA347594077
rs1348772635
569 S>R No ClinGen
TOPMed
rs1573399708
CA347594070
569 S>R No ClinGen
Ensembl
rs1353851715
CA347594063
571 E>K No ClinGen
gnomAD
CA1754622
rs139037041
572 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1754621
rs749734822
573 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA347594043
rs756141427
574 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs756141427
CA1754619
574 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA1754617
rs781244752
577 W>* No ClinGen
ExAC
gnomAD
CA1754618
rs746152711
577 W>R No ClinGen
ExAC
gnomAD
CA347594007
rs1373832495
578 N>K No ClinGen
Ensembl
CA347594005
rs1456164712
579 D>N No ClinGen
TOPMed
COSM1023603
COSM1023602
CA347593984
rs1573399636
581 K>N endometrium [Cosmic] No ClinGen
cosmic curated
Ensembl
TCGA novel 582 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776056726 582 N>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1031732785
CA51491996
585 Y>S No ClinGen
TOPMed
gnomAD
CA1754613
rs754973185
588 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA347593922
rs371389672
589 Y>* No ClinGen
ESP
ExAC
gnomAD
CA347593867
rs1805164
597 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs761374228
CA1754590
601 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs367551388
CA1754589
601 R>H No ClinGen
ESP
ExAC
gnomAD
CA347593843
rs367551388
601 R>L No ClinGen
ESP
ExAC
gnomAD
CA347593833
rs1558650314
603 G>D No ClinGen
Ensembl
TCGA novel 612 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1263885546
CA347593758
614 V>I No ClinGen
TOPMed
rs1025951513
CA51489981
618 N>S No ClinGen
TOPMed
CA1754587
rs763275495
620 A>V No ClinGen
ExAC
gnomAD
TCGA novel 623 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1754585
rs770192517
625 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA1754586
rs770192517
625 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs374308160
CA1754584
625 R>H No ClinGen
ExAC
gnomAD
CA1754581
rs747258023
628 N>K No ClinGen
ExAC
gnomAD
CA1754557
rs540704378
631 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA347593388
rs1233975926
632 A>V No ClinGen
gnomAD
rs1283246923
CA347593386
633 R>Q No ClinGen
TOPMed
COSM1409912
rs748318874
CA1754556
COSM1409913
633 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1255091514
CA347593374
635 K>E No ClinGen
TOPMed
gnomAD
CA347593355
rs1212032502
637 M>I No ClinGen
TOPMed
rs1288833379
CA347593349
638 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs180939276
CA1754552
639 E>K No ClinGen
1000Genomes
ExAC
CA1754549
rs777211078
641 K>* No ClinGen
ExAC
gnomAD
rs1474386390
CA347593311
644 A>D No ClinGen
TOPMed
rs752306602
CA1754547
649 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 649 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA51487548
rs1031139865
657 A>S No ClinGen
Ensembl
CA51487541
rs1041632555
659 L>I No ClinGen
TOPMed
rs1415375926
CA347593204
660 E>K No ClinGen
TOPMed
rs142325107
CA1754543
661 A>T No ClinGen
ESP
ExAC
CA1754542
rs760895791
662 P>Q No ClinGen
ExAC
gnomAD
rs773438842
CA1754541
664 E>Q No ClinGen
ExAC
gnomAD
CA347593164
rs1409352536
666 W>R No ClinGen
gnomAD
CA347593155
rs1336637096
667 Q>E No ClinGen
TOPMed
CA51487499
rs999686631
670 M>L No ClinGen
TOPMed
gnomAD
CA1754540
rs767634201
670 M>T No ClinGen
ExAC
gnomAD
CA1754538
rs774582330
673 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA347593093
rs1312383245
675 L>R No ClinGen
Ensembl
rs769523936
CA1754537
677 D>G No ClinGen
ExAC
gnomAD
rs1245216593
CA347593081
677 D>H No ClinGen
gnomAD
rs745674404
CA1754536
679 S>N No ClinGen
ExAC
gnomAD
TCGA novel 682 W>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770672534
CA1754517
684 L>F No ClinGen
ExAC
gnomAD
rs746972131
CA1754516
685 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs773112872
CA1754515
686 S>F No ClinGen
ExAC
gnomAD
CA51486711
rs867113140
690 M>I No ClinGen
Ensembl
rs1465588512
CA347592972
691 D>G No ClinGen
gnomAD
rs62157769
CA51486682
692 A>V No ClinGen
gnomAD
rs1466276004
CA347592962
693 P>T No ClinGen
gnomAD
rs974345812
CA51486670
695 V>I No ClinGen
TOPMed
gnomAD
CA51486661
rs895611424
697 I>V No ClinGen
Ensembl
rs189064501
CA1754510
698 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs780592115
CA1754509
698 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA51486642
rs780592115
698 R>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 699 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347592921
rs751013573
700 M>K No ClinGen
ExAC
gnomAD
CA1754506
rs751013573
700 M>T No ClinGen
ExAC
gnomAD
CA1754507
rs756493851
700 M>V No ClinGen
ExAC
gnomAD
CA347592914
rs1233958215
701 D>V No ClinGen
TOPMed
CA347592881
rs1805165
COSM1205103
704 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs542707362
CA51486635
705 T>S No ClinGen
gnomAD
CA1754503
rs764017694
706 K>E No ClinGen
ExAC
gnomAD
rs570127757
CA1754502
707 E>G No ClinGen
1000Genomes
ExAC
gnomAD
CA1754501
rs374554600
709 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA51486621
rs764085183
709 I>V No ClinGen
Ensembl
CA1754500
RCV001345768
rs766212381
712 I>V No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
TCGA novel 713 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773198802
CA1754498
713 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 714 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs55861585
CA1754495
VAR_040478
716 P>L No ClinGen
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA51486572
rs574976232
716 P>S No ClinGen
ExAC
gnomAD
rs574976232
CA1754496
716 P>T No ClinGen
ExAC
gnomAD
CA1754494
rs768007461
717 Q>R No ClinGen
ExAC
gnomAD
CA51486556
rs201096232
718 R>G No ClinGen
TOPMed
CA347592681
rs779827181
CA1754493
718 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA1754490
rs746223755
719 S>N No ClinGen
ExAC
gnomAD
CA1754491
rs770320288
719 S>R No ClinGen
ExAC
gnomAD
TCGA novel 721 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs947040918
CA51486528
721 S>Y No ClinGen
TOPMed
gnomAD
rs781644116
CA1754489
722 F>S No ClinGen
ExAC
gnomAD
rs1236281507
CA347592600
724 V>G No ClinGen
TOPMed
CA1754486
rs777932006
726 I>F No ClinGen
ExAC
gnomAD
CA1754487
rs777932006
726 I>V No ClinGen
ExAC
gnomAD
rs1140819
CA51486508
727 S>P No ClinGen
Ensembl
rs758386944
CA1754485
728 C>R No ClinGen
ExAC
gnomAD
CA1754484
rs752958536
731 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA347592510
rs752958536
731 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs1346069423
CA347592433
737 Q>E No ClinGen
TOPMed
CA347592370
rs1309864268
742 E>A No ClinGen
gnomAD
CA347592359
rs1558648202
743 F>L No ClinGen
Ensembl
rs1573393261
CA347592313
746 M>I No ClinGen
Ensembl
CA347592299
rs1443330902
747 D>G No ClinGen
gnomAD
CA347592305
rs1329425023
747 D>H No ClinGen
TOPMed
gnomAD
rs1329425023
CA347592307
747 D>N No ClinGen
TOPMed
gnomAD
TCGA novel 749 E>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774103568
CA1754478
751 I>T No ClinGen
ExAC
rs376905155
CA1754476
752 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1754475
rs762335106
754 S>* No ClinGen
ExAC
gnomAD
TCGA novel 754 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 755 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 756 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347592161
rs1558648168
756 D>H No ClinGen
Ensembl
CA347592132
rs1160426248
758 A>P No ClinGen
gnomAD
rs769586514
CA1754473
759 Y>* No ClinGen
ExAC
CA1754472
rs745450377
760 N>D No ClinGen
ExAC
gnomAD
CA347592084
rs1379109787
761 L>F No ClinGen
gnomAD
CA1754470
rs771151381
764 S>N No ClinGen
ExAC
gnomAD
rs747601591
CA1754469
764 S>R No ClinGen
ExAC
gnomAD
CA1754468
rs778113344
766 L>F No ClinGen
ExAC
gnomAD
CA1754467
rs758572014
767 T>K No ClinGen
ExAC
gnomAD
rs758572014
CA347592000
767 T>R No ClinGen
ExAC
gnomAD
TCGA novel 768 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1754466
rs566226789
770 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs933101367
CA51486374
774 G>R No ClinGen
Ensembl
CA347591893
rs1430430675
775 T>N No ClinGen
Ensembl
CA1754463
rs754018522
776 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs755197043
CA1754464
776 M>K No ClinGen
ExAC
gnomAD
TCGA novel 778 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347591868
rs1331889033
779 N>D No ClinGen
gnomAD
CA1754460
rs751553557
779 N>K No ClinGen
ExAC
gnomAD
rs752973018
CA1754461
779 N>S No ClinGen
ExAC
gnomAD
TCGA novel 780 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347591850
COSM1023592
rs1365163126
COSM1023593
780 D>Y Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA347591812
rs1420157803
782 G>E No ClinGen
gnomAD
CA51486342
rs866676281
784 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs762928284
CA1754458
786 E>D No ClinGen
ExAC
gnomAD
CA347591744
rs1467191584
787 L>F No ClinGen
gnomAD
CA347591733
rs1197779008
788 C>G No ClinGen
gnomAD
CA347591730
rs1431121237
788 C>Y No ClinGen
gnomAD
rs976895681
CA51486334
791 E>K No ClinGen
gnomAD
rs1488218683
CA347591672
792 A>V No ClinGen
gnomAD
TCGA novel 795 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764803957
CA1754456
796 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs764803957
CA347591627
796 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1345857138
CA534630098
797 R>T* No ClinGen
gnomAD
CA347591593
rs1255608073
798 S>L No ClinGen
gnomAD
rs759288815
CA1754455
799 R>K No ClinGen
ExAC
gnomAD
rs908796009
CA51486306
800 E>D No ClinGen
Ensembl
CA347591549
rs1573393050
802 T>P No ClinGen
Ensembl
CA347591542
rs1328430364
802 T>S No ClinGen
TOPMed
gnomAD
CA347591502
rs1301049321
805 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA347591479
rs1558648052
807 V>E No ClinGen
Ensembl
TCGA novel 807 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1647359
CA347591457
rs1279792355
COSM722934
809 E>K lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA347591427
rs1558648042
810 D>E No ClinGen
Ensembl
CA1754454
rs776126535
811 S>C No ClinGen
ExAC
gnomAD
rs1244497174
CA347591398
813 C>G No ClinGen
TOPMed
gnomAD
rs1270797792
CA347591373
814 D>E No ClinGen
TOPMed
CA347591378
rs1232810293
814 D>G No ClinGen
TOPMed
CA1754452
rs569324630
816 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA347591337
rs1194194745
817 S>F No ClinGen
TOPMed
CA347591332
rs1397242777
818 S>G No ClinGen
gnomAD
rs1469352010
CA347591273
821 E>D No ClinGen
TOPMed
rs767541817
RCV001320118
821 E>missing No ClinVar
dbSNP
rs551274166
CA1754448
822 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs551274166
CA347591260
822 P>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA1754449
rs551274166
822 P>R No ClinGen
1000Genomes
ExAC
gnomAD
CA347591232
rs1432196367
825 N>I No ClinGen
TOPMed
CA1754445
rs755001234
826 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA347591223
COSM1023590
COSM1023591
rs1171816937
826 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs369837691
CA1754443
828 H>L No ClinGen
ESP
ExAC
gnomAD
CA1754444
rs369837691
828 H>P No ClinGen
ESP
ExAC
gnomAD
TCGA novel 830 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347591113
rs1261615597
830 G>D No ClinGen
gnomAD
CA347591051
rs1190282186
832 H>R No ClinGen
gnomAD
rs1474123036
CA347591005
833 C>W No ClinGen
TOPMed
rs1395104505
CA347590962
834 A>V No ClinGen
TOPMed
rs763883904
CA1754440
835 N>S No ClinGen
ExAC
gnomAD
rs1198813637
CA347590947
835 N>Y No ClinGen
gnomAD
rs137868793
CA51486230
837 L>I No ClinGen
ESP
TOPMed
gnomAD
CA347590869
rs1317118350
837 L>P No ClinGen
gnomAD
rs1382624185
CA347590758
841 K>N No ClinGen
TOPMed
rs759089652
CA1754436
841 K>Q No ClinGen
ExAC
gnomAD
rs776415401
CA1754435
842 P>A No ClinGen
ExAC
gnomAD
CA347590690
rs1393852682
844 S>G No ClinGen
gnomAD
CA1754434
rs765936619
844 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA51486152
rs369602164
845 S>T No ClinGen
ESP
TOPMed
gnomAD
CA347590608
rs1573392867
846 K>R No ClinGen
Ensembl
rs1558647914
CA347590586
847 S>F No ClinGen
Ensembl
TCGA novel 848 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1421873804
CA347590530
849 S>F No ClinGen
gnomAD
CA347590523
rs1558647902
850 E>Q No ClinGen
Ensembl
CA1754431
rs773451477
851 A>V No ClinGen
ExAC
gnomAD
CA1754429
rs150135027
852 T>I No ClinGen
ESP
ExAC
gnomAD
CA347590395
rs1459173233
854 S>C No ClinGen
gnomAD
CA347590373
rs1356220658
855 I>T No ClinGen
Ensembl
rs1238993770
CA347590380
855 I>V No ClinGen
TOPMed
gnomAD
rs768762794
CA1754427
857 P>L No ClinGen
ExAC
gnomAD
rs1263404377
CA347590335
858 P>A No ClinGen
TOPMed
CA347590313
rs1444977556
859 R>K No ClinGen
TOPMed
rs1456637620
CA347590271
861 T>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs200955126
CA1754426
862 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 863 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 867 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1356952939
CA347590095
870 N>T No ClinGen
gnomAD
CA347590022
rs1573392756
874 K>E No ClinGen
Ensembl
CA347590003
rs1162677725
875 L>F No ClinGen
TOPMed
rs1378539318
CA347589999
875 L>R No ClinGen
gnomAD
rs746064190
CA1754423
878 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1397688884
CA347589906
882 V>L No ClinGen
TOPMed
gnomAD
rs1325927822
CA347589819
888 M>I No ClinGen
gnomAD
CA347589802
rs1387341784
889 Q>H No ClinGen
TOPMed
rs758246673
CA1754421
897 K>E No ClinGen
ExAC
gnomAD
rs1380949636
CA347589640
900 M>I No ClinGen
gnomAD
rs1442109327
CA347589651
900 M>V No ClinGen
gnomAD
CA347589602
rs1438002291
COSM1752716
COSM1752717
903 R>Q Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA347589595
rs752726105
904 C>G No ClinGen
ExAC
TOPMed
gnomAD
CA1754420
rs752726105
904 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs1452006499
CA347589562
906 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1311165257
CA347589548
907 E>G No ClinGen
TOPMed
rs1289032685
CA347589541
908 E>K No ClinGen
gnomAD
rs754596362
CA1754418
909 R>I No ClinGen
ExAC
gnomAD
CA347589476
rs1355808997
912 S>N No ClinGen
gnomAD
CA1754416
rs761829897
913 V>M Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA347589407
rs1437599611
917 I>F No ClinGen
gnomAD
rs1437599611
CA347589409
917 I>V No ClinGen
gnomAD
CA1754411
rs774904859
922 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA347589311
rs774904859
922 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs769136888
CA1754410
922 A>V No ClinGen
ExAC
gnomAD
rs781534136
CA1754405
935 H>D No ClinGen
ExAC
gnomAD
CA347588986
rs1488731167
936 R>G No ClinGen
gnomAD
CA347587449
rs1238631613
943 I>V No ClinGen
gnomAD
rs577767738
CA1754380
947 M>I No ClinGen
1000Genomes
ExAC
gnomAD
CA347587368
rs1045936070
947 M>R No ClinGen
TOPMed
gnomAD
CA51483554
rs1045936070
947 M>T No ClinGen
TOPMed
gnomAD
rs781425137
CA51483538
949 D>H No ClinGen
Ensembl
rs745368997
CA1754378
950 V>A No ClinGen
ExAC
gnomAD
CA1754379
rs755647253
950 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1558646384
CA347587207
956 F>L No ClinGen
Ensembl
CA347587169
rs1262362715
960 T>A No ClinGen
TOPMed
CA1754376
rs756905625
962 M>T No ClinGen
ExAC
TOPMed
gnomAD
COSM1159223
rs1213285607
CA347587158
962 M>V pancreas [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1256624277
CA347587109
968 E>K No ClinGen
TOPMed
CA347587101
rs1462526886
969 Q>E No ClinGen
TOPMed
rs1447475016
CA347587097
969 Q>L No ClinGen
gnomAD
CA1754375
rs751166753
970 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA347587077
rs1466354178
973 T>A No ClinGen
gnomAD
CA1754373
rs758759825
973 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA347587065
rs1558646340
975 M>K No ClinGen
Ensembl
CA1754369
rs372331748
976 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA51483443
rs764214778
980 R>K No ClinGen
Ensembl
rs1573389692
CA347587027
981 H>Y No ClinGen
Ensembl
CA51483416
rs918476097
982 T>I No ClinGen
TOPMed
rs918476097
CA347587018
982 T>K No ClinGen
TOPMed
TCGA novel 984 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1240864656
CA347587004
984 Q>H No ClinGen
gnomAD
rs1158541478
CA347586998
985 V>A No ClinGen
TOPMed
rs368610114
CA1754367
987 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200538775
CA1754366
991 M>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1573389652
CA347586942
991 M>T No ClinGen
Ensembl
CA347586927
rs1257752880
992 S>T No ClinGen
gnomAD
TCGA novel 995 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs148953825
CA1754356
996 I>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148953825
CA51473740
996 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758752139
CA1754355
997 H>Q No ClinGen
ExAC
gnomAD
CA51473726
rs986571206
998 G>E No ClinGen
Ensembl
CA347585377
rs1216835629
1000 S>N No ClinGen
TOPMed
CA347585369
rs1271254368
1001 Y>C No ClinGen
TOPMed
CA1754352
rs779084189
1003 H>Q No ClinGen
ExAC
gnomAD
CA347585350
rs755543117
1004 K>* No ClinGen
ExAC
TOPMed
gnomAD
rs755543117
CA1754351
1004 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs754710304
CA51473714
1007 I>V No ClinGen
gnomAD
CA1754350
rs754345067
1010 L>S No ClinGen
ExAC
TOPMed
gnomAD
rs1398272432
CA347585281
1015 F>V No ClinGen
TOPMed
gnomAD
TCGA novel 1019 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1020 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1242197456
CA347585213
1024 Q>R No ClinGen
TOPMed
rs767767088
CA1754346
1026 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1184728974
CA347585193
1027 R>G No ClinGen
TOPMed
CA347585191
rs1369407813
1027 R>K No ClinGen
gnomAD
CA347585190
rs1369407813
1027 R>T No ClinGen
gnomAD
rs1199995541
CA347584461
1030 T>S No ClinGen
gnomAD
CA1754324
rs755369984
1032 T>I No ClinGen
ExAC
gnomAD
CA51470973
rs995615422
1033 D>Y No ClinGen
gnomAD
COSM1637915
CA1754323
COSM1637914
rs374423016
1034 V>I bone [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
gnomAD
CA51470957
rs146129461
1035 R>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
RCV000502635
rs750529763
CA347584352
1038 K>N No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs1194974239
CA347584359
1038 K>R No ClinGen
gnomAD
CA347584269
rs1433555672
1045 Q>E No ClinGen
TOPMed
rs1168679739
CA347584237
1047 Y>C No ClinGen
TOPMed
CA51470941
rs767840632
1047 Y>H No ClinGen
Ensembl
rs746319005
CA1754299
1052 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1378636412
CA347584084
1053 M>T No ClinGen
TOPMed
gnomAD
rs141166027
CA1754298
1053 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA347584064
rs1268382711
1055 Q>E No ClinGen
gnomAD
CA1754297
rs757254462
1056 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA1754296
rs751877330
1062 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 1063 M>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1754295
rs764288224
1063 M>T No ClinGen
ExAC
gnomAD
rs1449935403
CA347583987
1064 E>V No ClinGen
gnomAD
rs866814797
CA51470182
COSM79355
COSM1205102
1065 R>* ovary large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
TCGA novel 1065 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347583971
rs1332444284
1065 R>Q No ClinGen
gnomAD
rs1283080966
CA347583944
1067 E>A No ClinGen
TOPMed
rs1283080966
CA347583940
1067 E>V No ClinGen
TOPMed
CA347583905
rs1165452910
1069 I>M No ClinGen
gnomAD
CA347583911
rs1394933147
1069 I>T No ClinGen
gnomAD
TCGA novel 1072 I>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1458891483
CA347583856
1072 I>T No ClinGen
gnomAD
rs1209823230
CA347583793
1075 A>V No ClinGen
TOPMed
CA347583690
rs1182218596
1081 D>G No ClinGen
gnomAD
rs1270652878
CA347583658
1083 P>A No ClinGen
TOPMed
gnomAD
TCGA novel 1083 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA347583638
rs1454332345
1084 G>E No ClinGen
TOPMed
rs773099851
CA1754292
1086 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs766126107
CA1754291
1087 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1558640744
CA347583602
1087 V>M No ClinGen
Ensembl
CA1754290
rs143931342
1088 L>R No ClinGen
ESP
ExAC
rs1413880878
CA347583572
1089 R>K No ClinGen
TOPMed
rs1329497693
CA347583561
1090 Q>R No ClinGen
TOPMed
rs773003685
CA1754289
1091 R>K No ClinGen
ExAC
CA347583546
rs1279814645
1092 S>F No ClinGen
gnomAD
rs765299033
CA51470133
1093 R>C No ClinGen
TOPMed
gnomAD
COSM1409905
CA1754286
rs765878566
COSM1409904
1093 R>H large_intestine Variant assessed as Somatic; 9.239e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs376257254
CA1754285
1094 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768435755
CA1754284
1095 L>M No ClinGen
ExAC
gnomAD
CA51470090
rs762080456
1096 S>N No ClinGen
TOPMed
gnomAD
rs770232594
CA1754281
1098 S>* No ClinGen
ExAC
gnomAD
rs770232594
CA1754282
1098 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1200751163
CA347583421
1104 R>I No ClinGen
gnomAD
rs1490490578
CA347583408
1105 Q>* No ClinGen
gnomAD
CA1754277
rs747073375
1106 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1439859735
CA347583358
1108 N>D No ClinGen
TOPMed
CA51470041
rs1032902320
1109 S>C No ClinGen
TOPMed
CA1754275
rs145982613
RCV001297358
1110 H>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1558640665
CA347583316
1110 H>R No ClinGen
Ensembl
rs1468683841
CA347583269
1112 P>L No ClinGen
TOPMed
TCGA novel 1113 L>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA51470032
rs776812138
1114 P>L No ClinGen
TOPMed
rs1040042580
CA51470030
1115 S>T No ClinGen
Ensembl
CA894312208
rs1477421865
1117 N>A No ClinGen
TOPMed
rs752870446
CA1754274
1117 N>S No ClinGen
ExAC
TOPMed
gnomAD

1 associated diseases with Q9NZJ5

[MIM: 226980]: Wolcott-Rallison syndrome (WRS)

A rare autosomal recessive disorder, characterized by permanent neonatal or early infancy insulin-dependent diabetes and, at a later age, epiphyseal dysplasia, osteoporosis, growth retardation and other multisystem manifestations, such as hepatic and renal dysfunctions, intellectual disability and cardiovascular abnormalities. {ECO:0000269|PubMed:10932183}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A rare autosomal recessive disorder, characterized by permanent neonatal or early infancy insulin-dependent diabetes and, at a later age, epiphyseal dysplasia, osteoporosis, growth retardation and other multisystem manifestations, such as hepatic and renal dysfunctions, intellectual disability and cardiovascular abnormalities. {ECO:0000269|PubMed:10932183}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q9NZJ5

Type Name Position InterPro Accession
domain Protein kinase domain 593 - 1077 IPR000719
active_site Serine/threonine-protein kinase, active site 933 - 945 IPR008271
binding_site Protein kinase, ATP binding site 599 - 622 IPR017441

Functions

Description
EC Number 2.7.11.1 Protein-serine/threonine kinases
Subcellular Localization
  • Endoplasmic reticulum membrane; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum membrane The lipid bilayer surrounding the endoplasmic reticulum.
integral component of endoplasmic reticulum membrane The component of the endoplasmic reticulum 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.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
perinuclear region of cytoplasm Cytoplasm situated near, or occurring around, the nucleus.

9 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
enzyme binding Binding to an enzyme, a protein with catalytic activity.
eukaryotic translation initiation factor 2alpha kinase activity Catalysis of the reaction: ATP
Hsp90 protein binding +Binding to Hsp90 proteins, any of a group of heat shock proteins around 90kDa in size.
identical protein binding Binding to an identical protein or proteins.
protein kinase activity Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.
protein phosphatase binding Binding to a protein phosphatase.
protein serine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.

33 GO annotations of biological process

Name Definition
activation of cysteine-type endopeptidase activity involved in apoptotic process Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process.
angiogenesis Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
bone mineralization The deposition of hydroxyapatite, a form of calcium phosphate with the formula Ca10(PO4)6(OH)2, in bone tissue.
calcium-mediated signaling Any intracellular signal transduction in which the signal is passed on within the cell via calcium ions.
cellular response to amino acid starvation Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of amino acids.
cellular response to cold Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cold stimulus, a temperature stimulus below the optimal temperature for that organism.
cellular response to glucose starvation Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of glucose.
chondrocyte development The process whose specific outcome is the progression of a chondrocyte over time, from its commitment to its mature state. Chondrocyte development does not include the steps involved in committing a chondroblast to a chondrocyte fate.
eiF2alpha phosphorylation in response to endoplasmic reticulum stress The addition of a phosphate group on to the translation initiation factor eIF2alpha, as a result of endoplasmic reticulum stress.
endocrine pancreas development The process whose specific outcome is the progression of the endocrine pancreas over time, from its formation to the mature structure. The endocrine pancreas is made up of islet cells that produce insulin, glucagon and somatostatin.
endoplasmic reticulum organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endoplasmic reticulum.
endoplasmic reticulum unfolded protein response The series of molecular signals generated as a consequence of the presence of unfolded proteins in the endoplasmic reticulum (ER) or other ER-related stress; results in changes in the regulation of transcription and translation.
ER overload response The series of molecular signals initiated by the accumulation of normal or misfolded proteins in the endoplasmic reticulum and leading to activation of transcription by NF-kappaB.
insulin-like growth factor receptor signaling pathway The series of molecular signals initiated by a ligand binding to an insulin-like growth factor receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
negative regulation of myelination Any process that stops, prevents, or reduces the frequency, rate or extent of the formation of a myelin sheath around nerve axons.
negative regulation of translation Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.
negative regulation of translation in response to stress Any process that stops, prevents or reduces the rate of translation as a result of a stimulus indicating the organism is under stress.
negative regulation of translational initiation in response to stress Any process that stops, prevents or reduces the rate of translation initiation as a result of a stimulus indicating the organism is under stress.
ossification The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.
peptidyl-serine phosphorylation The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine.
PERK-mediated unfolded protein response The series of molecular signals mediated by the endoplasmic reticulum membrane stress sensor PERK (PKR-like ER kinase). Begins with activation of PERK in response to endoplasmic reticulum (ER) stress and ends with regulation of a downstream cellular process, e.g. transcription. The main substrate of PERK is the translation initiation factor eIF2alpha. Serine-phosphorylation of eIF2alpha by PERK inactivates eIF2alpha and inhibits general protein translation. In addition, eIF2alpha phosphorylation preferentially increases the translation of selective mRNAs such as ATF4 (activating transcription factor 4), which up regulates a subset of UPR genes required to restore folding capacity.
positive regulation of gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of protein localization to nucleus Any process that activates or increases the frequency, rate or extent of protein localization to nucleus.
positive regulation of transcription by RNA polymerase I Any process that activates or increases the frequency, rate or extent of transcription mediated by RNA polymerase I.
positive regulation of vascular endothelial growth factor production Any process that increases or activates the frequency, rate, or extent of production of vascular endothelial growth factor.
protein autophosphorylation The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation Any process that modulates the rate, frequency, or extent of eIF2 alpha phosphorylation as a cellular response to endoplasmic reticulum stress.
regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway Any process that modulates the frequency, rate or extent of an endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway.
regulation of translational initiation by eIF2 alpha phosphorylation Any process that modulates the frequency, rate or extent of translation initiation in response to stress by the phosphorylation of eIF2 alpha.
response to endoplasmic reticulum stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stress acting at the endoplasmic reticulum. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen.
response to manganese-induced endoplasmic reticulum stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of endoplasmic reticulum stress caused by a manganese stimulus.
skeletal system development The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton).

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P30291 WEE1 Wee1-like protein kinase Homo sapiens (Human) PR
Q9P2K8 EIF2AK4 eIF-2-alpha kinase GCN2 Homo sapiens (Human) EV
Q99640 PKMYT1 Membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase Homo sapiens (Human) PR
P19525 EIF2AK2 Interferon-induced, double-stranded RNA-activated protein kinase Homo sapiens (Human) PR
Q9T014 SPA2 Protein SPA1-RELATED 2 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MERAISPGLL VRALLLLLLL LGLAARTVAA GRARGLPAPT AEAAFGLGAA AAPTSATRVP
70 80 90 100 110 120
AAGAVAAAEV TVEDAEALPA AAGEQEPRGP EPDDETELRP RGRSLVIIST LDGRIAALDP
130 140 150 160 170 180
ENHGKKQWDL DVGSGSLVSS SLSKPEVFGN KMIIPSLDGA LFQWDQDRES METVPFTVES
190 200 210 220 230 240
LLESSYKFGD DVVLVGGKSL TTYGLSAYSG KVRYICSALG CRQWDSDEME QEEDILLLQR
250 260 270 280 290 300
TQKTVRAVGP RSGNEKWNFS VGHFELRYIP DMETRAGFIE STFKPNENTE ESKIISDVEE
310 320 330 340 350 360
QEAAIMDIVI KVSVADWKVM AFSKKGGHLE WEYQFCTPIA SAWLLKDGKV IPISLFDDTS
370 380 390 400 410 420
YTSNDDVLED EEDIVEAARG ATENSVYLGM YRGQLYLQSS VRISEKFPSS PKALESVTNE
430 440 450 460 470 480
NAIIPLPTIK WKPLIHSPSR TPVLVGSDEF DKCLSNDKFS HEEYSNGALS ILQYPYDNGY
490 500 510 520 530 540
YLPYYKRERN KRSTQITVRF LDNPHYNKNI RKKDPVLLLH WWKEIVATIL FCIIATTFIV
550 560 570 580 590 600
RRLFHPHPHR QRKESETQCQ TENKYDSVSG EANDSSWNDI KNSGYISRYL TDFEPIQCLG
610 620 630 640 650 660
RGGFGVVFEA KNKVDDCNYA IKRIRLPNRE LAREKVMREV KALAKLEHPG IVRYFNAWLE
670 680 690 700 710 720
APPEKWQEKM DEIWLKDEST DWPLSSPSPM DAPSVKIRRM DPFATKEHIE IIAPSPQRSR
730 740 750 760 770 780
SFSVGISCDQ TSSSESQFSP LEFSGMDHED ISESVDAAYN LQDSCLTDCD VEDGTMDGND
790 800 810 820 830 840
EGHSFELCPS EASPYVRSRE RTSSSIVFED SGCDNASSKE EPKTNRLHIG NHCANKLTAF
850 860 870 880 890 900
KPTSSKSSSE ATLSISPPRP TTLSLDLTKN TTEKLQPSSP KVYLYIQMQL CRKENLKDWM
910 920 930 940 950 960
NGRCTIEERE RSVCLHIFLQ IAEAVEFLHS KGLMHRDLKP SNIFFTMDDV VKVGDFGLVT
970 980 990 1000 1010 1020
AMDQDEEEQT VLTPMPAYAR HTGQVGTKLY MSPEQIHGNS YSHKVDIFSL GLILFELLYP
1030 1040 1050 1060 1070 1080
FSTQMERVRT LTDVRNLKFP PLFTQKYPCE YVMVQDMLSP SPMERPEAIN IIENAVFEDL
1090 1100 1110
DFPGKTVLRQ RSRSLSSSGT KHSRQSNNSH SPLPSN