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

2 structures for Q96TA1

Entry ID Method Resolution Chain Position Source
7CTP X-ray 180 A A 2-560 PDB
AF-Q96TA1-F1 Predicted AlphaFoldDB

682 variants for Q96TA1

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1237821465
CA375176650
3 D>G No ClinGen
TOPMed
rs751782877
CA5248142
3 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs893290433
CA201165520
5 L>V No ClinGen
TOPMed
gnomAD
rs1303164823
CA375176619
8 H>P No ClinGen
TOPMed
gnomAD
rs1468736657
CA375176617
8 H>Q No ClinGen
gnomAD
rs1232511245
CA375176615
9 L>V No ClinGen
TOPMed
gnomAD
CA375176593
rs1406756070
12 A>S No ClinGen
TOPMed
gnomAD
CA201165512
rs1025119122
14 R>C No ClinGen
gnomAD
rs990992552
CA201165499
16 H>L No ClinGen
TOPMed
CA375176565
rs1410051782
16 H>Q No ClinGen
TOPMed
rs1311548936
CA375176569
16 H>Y No ClinGen
TOPMed
gnomAD
CA5248124
rs139344456
20 K>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5248123
rs777969730
22 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1163243069
CA375175229
COSM1460095
25 L>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA5248122
rs146201580
26 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5248121
COSM3395576
rs146201580
COSM1242255
26 T>M pancreas oesophagus [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs755039023
CA5248119
27 E>Q No ClinGen
ExAC
gnomAD
CA375175193
rs1390551203
30 Q>H No ClinGen
TOPMed
rs1222586896
CA375175187
31 F>S No ClinGen
gnomAD
rs756095017
CA5248116
35 Q>L No ClinGen
ExAC
TOPMed
gnomAD
rs375235621
CA200258472
37 G>D No ClinGen
ESP
TOPMed
gnomAD
CA5248115
rs750268900
38 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA375175134
rs1213272894
39 A>T No ClinGen
TOPMed
gnomAD
CA5248113
rs761543447
41 F>L No ClinGen
ExAC
gnomAD
CA375175119
rs1357205731
41 F>S No ClinGen
TOPMed
CA375175114
rs1205029958
42 N>D No ClinGen
TOPMed
CA5248112
rs773811404
42 N>S No ClinGen
ExAC
gnomAD
rs763627681
CA5248111
43 S>G No ClinGen
ExAC
gnomAD
CA5248109
rs143275059
CA5248110
43 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM752678
rs1227581070
CA375175096
44 M>I lung [Cosmic] No ClinGen
cosmic curated
Ensembl
rs771469290
CA5248108
44 M>T No ClinGen
ExAC
gnomAD
rs371920682
CA5248107
45 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773683224
COSM292749
CA5248106
45 R>H Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748405028
CA5248104
47 E>K No ClinGen
ExAC
gnomAD
CA5248103
rs778959952
48 I>F No ClinGen
ExAC
gnomAD
CA5248102
rs201665892
49 E>A No ClinGen
1000Genomes
ExAC
gnomAD
rs201665892
CA200258471
49 E>G No ClinGen
1000Genomes
ExAC
gnomAD
rs368077273
CA5248101
50 G>D No ClinGen
ESP
ExAC
gnomAD
rs1208828145
CA375175062
50 G>S No ClinGen
gnomAD
rs1588166711
CA375175058
51 T>A No ClinGen
Ensembl
CA5248100
rs780246456
51 T>M No ClinGen
ExAC
gnomAD
CA375175055
rs780246456
51 T>R No ClinGen
ExAC
gnomAD
CA5248097
rs767352381
54 P>L No ClinGen
ExAC
gnomAD
CA375175034
rs1343680020
55 Q>R No ClinGen
gnomAD
rs1300709103
CA375175022
56 A>S No ClinGen
gnomAD
CA375175026
rs1300709103
56 A>T No ClinGen
gnomAD
rs751249160
CA5248095
59 L>P No ClinGen
ExAC
gnomAD
TCGA novel 60 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5248094
rs371821621
61 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs762563150
CA5248093
61 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA375174938
rs762563150
61 R>L No ClinGen
ExAC
gnomAD
CA375174945
rs371821621
61 R>S No ClinGen
ESP
ExAC
gnomAD
CA374973255
rs1259071014
63 V>M No ClinGen
TOPMed
gnomAD
CA374973217
rs1173273237
65 L>V No ClinGen
gnomAD
CA5248065
rs769087468
66 D>G No ClinGen
ExAC
gnomAD
rs143489395
CA5248066
66 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs182478049
CA5248063
67 E>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA374973197
rs1338536194
67 E>K No ClinGen
TOPMed
gnomAD
COSM455366
rs769941762
CA5248062
68 R>C Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs138792807
CA5248061
68 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA374973181
rs769941762
68 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs374845565
CA5248060
69 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM3413344
CA5248058
rs541599134
COSM3413345
70 V>I Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA374973147
rs541599134
70 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA5248056
rs368490986
72 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200797290
CA5248054
74 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs754633835
CA374973046
75 L>F No ClinGen
ExAC
gnomAD
rs754633835
CA5248053
75 L>I No ClinGen
ExAC
gnomAD
rs765905648
CA5248051
76 F>L No ClinGen
ExAC
gnomAD
rs1215989744
CA374973020
76 F>S No ClinGen
gnomAD
rs757758810
CA5248050
77 Q>* No ClinGen
ExAC
gnomAD
CA374973002
rs757758810
77 Q>E No ClinGen
ExAC
gnomAD
CA374972983
rs1294194236
77 Q>H No ClinGen
TOPMed
gnomAD
CA374972943
rs1220589133
79 Q>R No ClinGen
gnomAD
CA5248049
rs752049706
80 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA199858966
rs1018370537
81 D>E No ClinGen
Ensembl
CA5248048
rs764587574
81 D>V No ClinGen
ExAC
TOPMed
CA5248046
rs375771095
82 S>N No ClinGen
ESP
ExAC
gnomAD
rs775976278
CA5248045
84 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA374972735
rs1276306450
88 R>C No ClinGen
TOPMed
gnomAD
CA5248043
COSM280942
rs549746967
88 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs549746967
CA374972729
88 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1276306450
CA374972740
88 R>S No ClinGen
TOPMed
gnomAD
TCGA novel 91 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374972683
rs1266164191
91 L>P No ClinGen
TOPMed
COSM1105342
rs776632695
CA5248041
92 V>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA374972651
rs1265982133
93 P>S No ClinGen
TOPMed
rs1263650284
CA374972613
94 H>L No ClinGen
gnomAD
CA374972570
rs746952339
96 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA5248040
rs770984314
96 Y>S No ClinGen
ExAC
TOPMed
gnomAD
rs370720142
CA5248037
97 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5248038
rs370720142
97 G>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA374972550
rs1422100447
98 L>P No ClinGen
gnomAD
rs999816109
CA199858955
100 L>F No ClinGen
Ensembl
CA199858953
rs75835777
101 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201758465
CA5248035
101 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
CA5248033
rs547821680
102 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5248032
rs779439041
103 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA5248030
rs752137422
104 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA374972449
rs527792182
105 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1454432753
CA374972452
105 A>T No ClinGen
Ensembl
rs527792182
CA5248029
105 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5247999
rs762857729
107 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs375126632
CA5247997
109 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375126632
CA5247996
109 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5247998
rs775120448
109 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA374971532
rs1207987286
110 Q>H No ClinGen
gnomAD
rs201445763
CA374971474
111 V>A No ClinGen
ExAC
gnomAD
CA5247994
COSM3847686
rs201445763
111 V>G breast [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs755416285
CA5247991
112 P>L No ClinGen
ExAC
CA5247987
rs750582287
114 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5247986
rs767584590
115 A>G No ClinGen
ExAC
TOPMed
CA5247984
rs143200470
116 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5247985
rs147548410
116 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139246176
CA5247983
118 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs544648831
CA5247982
119 S>G No ClinGen
1000Genomes
ExAC
gnomAD
CA5247981
rs575722854
119 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
rs962144039
CA199858456
122 Y>C No ClinGen
Ensembl
CA374971116
rs1320381466
122 Y>H No ClinGen
gnomAD
CA199858454
rs1019088353
123 K>Q No ClinGen
TOPMed
gnomAD
CA374971058
rs1367034836
123 K>R No ClinGen
TOPMed
CA5247980
rs769655791
126 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs769655791
CA374970941
126 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs889351224
CA199858452
127 S>Y No ClinGen
Ensembl
CA5247977
rs146496636
128 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146496636
CA5247976
128 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5247975
rs777115465
130 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs1243485514
CA374970687
134 L>P No ClinGen
TOPMed
rs1490454798
CA374970650
135 I>T No ClinGen
TOPMed
rs749743591
CA5247973
137 N>I No ClinGen
ExAC
gnomAD
rs749743591
CA5247974
137 N>T No ClinGen
ExAC
gnomAD
CA374970517
rs113635787
140 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA5247972
rs113635787
140 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA5247948
rs747143090
142 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA374969922
rs747143090
142 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA5247947
rs550046797
143 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs148122479
CA5247943
146 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1564301870
CA374969811
146 S>P No ClinGen
Ensembl
rs766071759
CA5247941
147 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA199858164
rs944462596
148 S>G No ClinGen
TOPMed
gnomAD
COSM1489678
CA374969727
rs1197237555
149 A>T breast [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
TCGA novel 150 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5247940
rs760386366
150 P>S No ClinGen
ExAC
gnomAD
rs1235501532
CA374969626
151 I>V No ClinGen
TOPMed
gnomAD
rs772668983
CA5247939
152 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs1300814996
CA374969564
153 K>R No ClinGen
gnomAD
rs1300814996
CA374969569
153 K>T No ClinGen
gnomAD
CA374969458
rs1359636928
156 T>A No ClinGen
TOPMed
gnomAD
CA374969445
rs1588161081
156 T>I No ClinGen
Ensembl
CA5247936
rs761365112
157 Q>R No ClinGen
ExAC
gnomAD
CA374969401
rs1444393736
158 F>L No ClinGen
gnomAD
rs773824609
CA5247935
158 F>L No ClinGen
ExAC
gnomAD
rs547390879
CA5247934
159 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5247930
rs747289335
162 L>F No ClinGen
ExAC
gnomAD
CA5247929
rs777810202
165 P>A No ClinGen
ExAC
gnomAD
rs932165843
CA199858154
165 P>L No ClinGen
TOPMed
gnomAD
CA5247928
rs368076473
166 Y>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5247926
rs559492611
COSM150721
167 A>V stomach [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA5247924
rs148940802
168 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147101023
CA5247923
168 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA374969084
rs1564301770
169 H>P No ClinGen
Ensembl
TCGA novel 170 Y>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5247921
rs750109688
172 F>L No ClinGen
ExAC
gnomAD
rs1237668902
CA374969019
172 F>Y No ClinGen
TOPMed
gnomAD
rs767118080
CA5247920
173 C>Y No ClinGen
ExAC
gnomAD
CA5247919
rs761452503
174 M>I No ClinGen
ExAC
gnomAD
CA374968961
rs1397747476
174 M>V No ClinGen
TOPMed
gnomAD
rs144153796
CA5247917
178 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1251739
rs1053267708
CA199858141
178 A>V oesophagus [Cosmic] No ClinGen
cosmic curated
Ensembl
CA374968831
COSM271246
rs1439442732
179 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA374968805
rs1369443647
180 Q>R No ClinGen
gnomAD
rs201972811
CA5247915
181 D>N No ClinGen
1000Genomes
ExAC
TOPMed
rs1588160938
CA374968605
189 D>G No ClinGen
Ensembl
CA374968610
rs1422592360
189 D>H No ClinGen
gnomAD
rs1205784096
CA374968551
191 I>L No ClinGen
gnomAD
CA374968520
rs772489458
192 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA5247911
rs772489458
192 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs773593282
CA5247912
192 R>W Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1588160907
CA374968503
193 H>Y No ClinGen
Ensembl
rs1169433371
CA374968472
194 C>G No ClinGen
TOPMed
CA5247910
rs574705265
195 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs928898969
CA199858129
196 N>S No ClinGen
Ensembl
TCGA novel 199 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA199856904
rs374309098
199 P>R No ClinGen
ESP
TOPMed
gnomAD
CA5247884
rs780973652
199 P>S No ClinGen
ExAC
gnomAD
rs546026967
CA5247883
200 E>G No ClinGen
1000Genomes
ExAC
gnomAD
rs1012564890
CA199856902
203 K>E No ClinGen
TOPMed
rs746686598
CA5247882
203 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA199856898
rs758013461
208 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA5247880
rs758013461
208 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1289523954
CA374964987
211 D>E No ClinGen
gnomAD
rs764790646
CA5247878
211 D>G No ClinGen
ExAC
gnomAD
rs756590981
CA5247877
COSM1460094
214 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1398722495
CA374964939
214 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA199856895
rs557183200
215 M>L No ClinGen
1000Genomes
TOPMed
gnomAD
CA374964898
rs1221660805
217 R>* No ClinGen
TOPMed
rs1415080533
CA374964897
217 R>Q No ClinGen
gnomAD
rs1427396009
CA374964882
218 Q>E No ClinGen
gnomAD
CA199856894
rs776987381
219 S>F No ClinGen
Ensembl
rs202060817
CA5247876
221 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs112085953
CA199856890
223 Y>C No ClinGen
gnomAD
COSM1674844
COSM1674843
CA374964793
rs1490814073
223 Y>H large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
rs112085953
CA374964784
223 Y>S No ClinGen
gnomAD
rs892032640
CA199856887
224 G>S No ClinGen
TOPMed
gnomAD
rs774831020
CA5247873
225 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA374964730
rs1442452958
226 W>L No ClinGen
gnomAD
rs764480989
CA5247872
227 E>K No ClinGen
ExAC
gnomAD
CA5247870
rs775450090
230 C>Y No ClinGen
ExAC
gnomAD
CA5247868
rs200408710
233 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1588156269
CA374964525
234 V>L No ClinGen
Ensembl
CA374964076
rs1263298439
242 M>I No ClinGen
TOPMed
gnomAD
rs1474571112
CA374964080
242 M>T No ClinGen
gnomAD
rs1195318917
CA374963928
246 G>A No ClinGen
gnomAD
rs1554765657
CA374963948
246 G>S No ClinGen
Ensembl
CA374963092
rs1288318217
253 L>F No ClinGen
TOPMed
gnomAD
rs757854593
CA374963080
254 G>R No ClinGen
ExAC
gnomAD
rs757854593
CA5247839
254 G>S No ClinGen
ExAC
gnomAD
rs567489926
CA5247838
255 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA199856731
rs949854154
255 P>S No ClinGen
TOPMed
rs942990871
CA199856726
256 R>Q No ClinGen
Ensembl
CA5247836
rs528422288
256 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5247835
rs752982270
257 L>V No ClinGen
ExAC
CA374962984
rs1294399421
258 K>Q No ClinGen
gnomAD
CA199856723
rs958664647
259 G>E No ClinGen
TOPMed
gnomAD
CA374962913
rs1588155787
260 K>N No ClinGen
Ensembl
CA5247833
rs368493830
261 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368493830
CA374962901
261 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765537378
CA5247834
261 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA374962747
rs760610518
264 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs760610518
CA5247830
264 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs139508754
CA5247831
264 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs150543761
CA5247827
266 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5247828
rs374266414
266 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755295232
CA5247797
271 I>F No ClinGen
ExAC
gnomAD
CA374962311
rs1377421221
272 S>L No ClinGen
TOPMed
gnomAD
rs1360397846
CA374962253
273 D>V No ClinGen
gnomAD
rs901693409
CA199856688
274 A>S No ClinGen
gnomAD
CA5247793
rs750580619
275 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA374962122
rs147526033
277 H>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5247790
rs147526033
277 H>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775395342
CA5247788
277 H>Q No ClinGen
ExAC
gnomAD
CA5247789
rs61742100
277 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA374962033
rs1177250674
278 M>L No ClinGen
gnomAD
CA374961954
rs1419008015
279 V>A No ClinGen
gnomAD
CA199856680
rs1055620927
279 V>M No ClinGen
TOPMed
CA5247786
rs765051115
280 Y>H No ClinGen
ExAC
gnomAD
CA5247785
rs139210254
281 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776220337
CA5247784
282 Q>* No ClinGen
ExAC
gnomAD
CA374961751
rs1276762151
284 K>M No ClinGen
TOPMed
CA374961687
rs140486340
285 A>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147294840
CA5247783
285 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5247782
rs140486340
285 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5247780
rs202219424
286 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA5247779
COSM1651495
rs749689723
COSM1105338
286 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA374961585
CA5247778
rs756382989
287 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA5247776
rs746012686
288 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA5247775
CA374961451
rs757238376
290 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA5247774
rs757238376
290 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs751640282
CA5247773
291 L>P No ClinGen
ExAC
TCGA novel 292 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758406762
CA5247771
293 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA5247770
rs752599208
295 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA5247769
rs765067952
295 Q>R No ClinGen
ExAC
gnomAD
CA199856662
rs954429436
297 V>L No ClinGen
TOPMed
rs759229840
CA5247768
298 Q>E No ClinGen
ExAC
gnomAD
rs753390875
CA5247767
298 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs138211609
CA5247766
299 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA199856657
rs950198104
300 A>V No ClinGen
TOPMed
gnomAD
rs150439612
CA5247763
301 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5247764
rs772674360
301 M>V No ClinGen
ExAC
gnomAD
CA374960913
rs1263470572
303 A>P No ClinGen
TOPMed
rs1261386723
CA374960855
304 V>I No ClinGen
TOPMed
gnomAD
rs770106268
CA374960821
305 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA5247759
rs770106268
305 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs746127851
CA374960765
306 R>* No ClinGen
ExAC
gnomAD
CA199856650
rs748154341
306 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs371085080
CA5247756
309 M>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1464587213
CA374960655
309 M>V No ClinGen
TOPMed
rs963915552
CA199856647
310 D>E No ClinGen
TOPMed
gnomAD
rs368195302
CA5247755
312 I>V No ClinGen
ESP
ExAC
gnomAD
CA374960305
rs1341971403
314 T>A No ClinGen
gnomAD
CA374960276
rs141392004
314 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5247754
rs141392004
314 T>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1341971403
CA374960314
314 T>P No ClinGen
gnomAD
CA374960063
rs1391938484
320 A>D No ClinGen
gnomAD
rs758425249
CA5247753
320 A>S No ClinGen
ExAC
gnomAD
CA5247752
rs752617608
324 R>* No ClinGen
ExAC
gnomAD
CA5247751
rs778880991
324 R>Q Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5247711
rs776876414
326 F>S No ClinGen
ExAC
gnomAD
rs761011053
CA5247709
327 I>L No ClinGen
ExAC
gnomAD
rs761011053
CA5247710
327 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs772398032
CA5247706
329 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA5247707
rs772398032
329 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA5247703
rs774480906
330 K>M No ClinGen
ExAC
TOPMed
gnomAD
CA5247704
rs748275528
330 K>Q No ClinGen
ExAC
gnomAD
CA199853995
rs774480906
330 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1432585831
CA374956508
331 A>T No ClinGen
gnomAD
CA199853994
rs377686230
334 C>W No ClinGen
ESP
gnomAD
rs1179119334
CA374956415
334 C>Y No ClinGen
gnomAD
CA5247701
rs574506801
335 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs374128661
CA5247699
336 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779715730
CA5247700
336 R>W No ClinGen
ExAC
gnomAD
CA374956318
rs1323478175
337 N>H No ClinGen
gnomAD
rs370582135
CA5247698
338 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA374956123
rs1347550190
341 P>L No ClinGen
gnomAD
rs780863400
CA5247697
343 I>N No ClinGen
ExAC
gnomAD
rs553619776
CA5247696
344 P>L No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 345 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA199853991
rs1021547146
346 I>V No ClinGen
TOPMed
rs755447369
CA5247693
350 L>R No ClinGen
ExAC
gnomAD
CA374955835
rs1414408132
351 M>I No ClinGen
gnomAD
rs766673423
CA5247691
352 V>L No ClinGen
ExAC
gnomAD
CA374955775
rs1174213962
354 T>A No ClinGen
TOPMed
rs761168162
CA5247690
354 T>N No ClinGen
ExAC
rs967723354
CA199853990
358 F>I No ClinGen
Ensembl
CA5247688
rs767914409
361 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1010285462
CA199853989
362 R>Q No ClinGen
TOPMed
gnomAD
TCGA novel 362 R>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374955413
rs1259035907
367 K>R No ClinGen
gnomAD
rs1185274770
CA374955369
369 V>I No ClinGen
gnomAD
CA5247685
rs768713976
370 T>A No ClinGen
ExAC
gnomAD
CA5247684
rs749213184
370 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA199853988
rs145531660
371 D>Y No ClinGen
ESP
TOPMed
CA5247682
rs769689758
372 M>I No ClinGen
ExAC
gnomAD
TCGA novel 374 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745730530
CA5247681
376 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs780953007
CA5247680
377 I>V No ClinGen
ExAC
CA374955122
COSM1206083
rs1232824519
379 E>K large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA374955057
rs140423692
381 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA374955054
rs1588151343
381 G>D No ClinGen
Ensembl
rs140423692
CA5247677
COSM160897
381 G>S breast [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA5247676
rs540149997
382 I>M No ClinGen
1000Genomes
ExAC
gnomAD
CA374954968
rs1205418344
384 K>Q No ClinGen
TOPMed
rs752123683
CA5247675
386 G>S No ClinGen
ExAC
CA5247672
rs750871615
387 E>Q No ClinGen
ExAC
gnomAD
rs1299377727
CA374954071
389 M>I No ClinGen
gnomAD
rs376859514
CA5247647
389 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5247646
rs765238042
390 E>Q No ClinGen
ExAC
gnomAD
rs1353539934
CA374953958
392 L>M No ClinGen
gnomAD
CA374953906
rs1176392630
393 S>P No ClinGen
gnomAD
rs770835912
CA5247644
394 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs770835912
CA5247643
394 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs375242377
CA5247645
394 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA374953818
rs772875373
396 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA5247641
rs772875373
396 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA5247642
rs772875373
396 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1253368694
CA374953793
397 Y>D No ClinGen
gnomAD
CA374953753
rs1588150420
398 H>P No ClinGen
Ensembl
CA374953739
rs1238227388
398 H>Q No ClinGen
gnomAD
rs1002407596
CA199853831
398 H>Y No ClinGen
TOPMed
gnomAD
TCGA novel 400 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1588150409
CA374953685
400 L>P No ClinGen
Ensembl
rs1277926473
CA374953605
403 Q>H No ClinGen
gnomAD
CA199853829
rs1022973680
404 S>T No ClinGen
TOPMed
CA5247636
rs371866914
406 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781775048
CA5247634
411 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs757701903
CA5247633
413 R>* No ClinGen
ExAC
gnomAD
rs747464870
CA5247632
413 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA374953278
rs532985458
415 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5247631
rs532985458
415 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA374953227
rs1173402184
416 G>R No ClinGen
gnomAD
rs1007895082
CA199853828
418 Q>* No ClinGen
Ensembl
CA374953123
rs1454676347
420 R>Q No ClinGen
gnomAD
CA374953028
rs1588150358
422 D>E No ClinGen
Ensembl
rs1366023746
CA374952953
424 S>F No ClinGen
gnomAD
CA5247628
rs765325817
425 S>G No ClinGen
ExAC
gnomAD
rs755103095
CA5247627
426 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA199853827
rs112626528
428 V>L No ClinGen
ExAC
gnomAD
rs112626528
CA5247625
428 V>M No ClinGen
ExAC
gnomAD
rs1209866487
CA374952686
432 R>* No ClinGen
gnomAD
CA5247624
rs760512238
432 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1262383084
CA374952634
433 A>T No ClinGen
gnomAD
rs773069484
CA5247623
435 I>M No ClinGen
ExAC
gnomAD
CA5247621
rs761557803
438 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA5247619
rs768399125
438 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs768399125
CA5247620
438 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5247622
rs761557803
438 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1453484364
CA374952376
439 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1190742477
CA374950638
442 D>N No ClinGen
TOPMed
gnomAD
CA5247593
rs779233626
444 A>T No ClinGen
ExAC
gnomAD
CA374950546
rs1253502362
444 A>V No ClinGen
gnomAD
CA374950511
rs1203889019
445 V>G No ClinGen
TOPMed
rs749442375
CA5247591
445 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA199853776
rs957168977
446 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA5247590
rs780212910
447 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA374950318
rs1227108228
449 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA374950283
rs1372223884
450 T>N No ClinGen
gnomAD
rs1306212988
CA374950263
451 L>V No ClinGen
gnomAD
CA5247587
rs781029894
453 H>Y No ClinGen
ExAC
gnomAD
rs757249342
CA5247586
454 Q>H No ClinGen
ExAC
gnomAD
rs1394577849
CA374950079
455 E>K No ClinGen
gnomAD
rs1588149898
CA374950025
456 L>R No ClinGen
Ensembl
rs763915075
CA5247584
457 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA199853774
rs987078182
459 G>E No ClinGen
Ensembl
rs376530400
CA5247583
462 K>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 463 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5247582
rs752246319
464 E>D No ClinGen
ExAC
gnomAD
CA374949672
rs1246109495
467 K>Q No ClinGen
gnomAD
TCGA novel 467 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs955254047
CA374949630
468 S>C No ClinGen
gnomAD
CA199853773
rs955254047
468 S>F No ClinGen
gnomAD
CA5247579
rs776203950
469 I>T No ClinGen
ExAC
gnomAD
CA5247580
rs759011266
469 I>V No ClinGen
ExAC
gnomAD
CA5247578
rs772509598
471 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA374949528
rs1282922087
471 R>W No ClinGen
TOPMed
gnomAD
CA374949503
rs1280695837
472 V>I No ClinGen
gnomAD
rs768965151
CA374949377
475 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA5247575
rs768965151
475 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs779130348
CA199853772
475 R>W No ClinGen
TOPMed
CA374948993
rs1188630808
481 D>E No ClinGen
gnomAD
rs1253131819
CA374948996
481 D>G No ClinGen
TOPMed
rs1419855882
COSM1105333
CA374949012
481 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1197734178
CA374948979
482 Y>C No ClinGen
TOPMed
CA374948988
rs1175220571
482 Y>N No ClinGen
TOPMed
gnomAD
COSM1292794
rs372270814
CA5247530
483 D>N haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA374948908
rs1194824413
484 S>C No ClinGen
TOPMed
gnomAD
CA374948839
rs1299771498
487 V>M No ClinGen
TOPMed
rs772145640
CA5247528
488 R>G No ClinGen
ExAC
CA5247527
rs201233827
488 R>Q No ClinGen
ExAC
gnomAD
rs772145640
CA5247529
488 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
CA199853741
rs1003409103
490 R>K No ClinGen
TOPMed
rs1221013569
CA374948733
490 R>S No ClinGen
gnomAD
rs778602006
CA374948628
493 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA5247526
rs778602006
493 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA374948537
COSM141278
rs1216080262
495 A>V upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1564292908
CA374948449
499 I>F No ClinGen
Ensembl
rs1441547016
CA374948425
499 I>M No ClinGen
gnomAD
CA374948411
rs1373182512
500 S>N No ClinGen
gnomAD
TCGA novel 500 S>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369275279
CA5247523
501 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5247522
rs762335780
502 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5247520
rs766948602
503 F>V No ClinGen
ExAC
gnomAD
CA374948201
rs1564292860
509 A>D No ClinGen
Ensembl
CA5247517
rs765640749
509 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1564292860
CA374948182
509 A>V No ClinGen
Ensembl
CA5247516
rs759988005
510 P>S No ClinGen
ExAC
gnomAD
CA374948165
rs759988005
510 P>T No ClinGen
ExAC
gnomAD
rs1222392858
CA374948122
512 C>F No ClinGen
TOPMed
gnomAD
CA5247515
rs754252948
513 K>T No ClinGen
ExAC
gnomAD
rs200796169
CA5247514
514 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5247487
rs769529372
515 E>K No ClinGen
ExAC
rs745642516
CA5247486
517 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs201427745
CA5247484
518 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780940200
CA5247485
518 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5247483
rs746590065
520 Q>* No ClinGen
ExAC
gnomAD
rs1262473946
CA374947916
521 E>K No ClinGen
gnomAD
CA374947901
rs1588149295
522 L>M No ClinGen
Ensembl
CA374947890
rs1206250254
523 I>L No ClinGen
gnomAD
CA5247481
rs755550771
526 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs749769768
CA5247480
528 A>S No ClinGen
ExAC
gnomAD
rs780583830
CA5247479
529 R>G No ClinGen
ExAC
gnomAD
rs1312435928
CA374947747
529 R>M No ClinGen
TOPMed
gnomAD
CA374947749
rs1312435928
529 R>T No ClinGen
TOPMed
gnomAD
rs1588149264
CA374947721
531 I>F No ClinGen
Ensembl
rs1023527621
CA199853729
531 I>T No ClinGen
TOPMed
rs1319164490
CA374947641
536 T>A No ClinGen
gnomAD
CA5247477
rs750783560
536 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs751672920
CA5247474
538 E>D No ClinGen
ExAC
gnomAD
CA374947589
rs1416553114
538 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA5247472
rs762901875
541 V>M No ClinGen
ExAC
gnomAD
TCGA novel 544 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5247470
rs139005563
545 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs759396491
CA5247469
546 M>T No ClinGen
ExAC
gnomAD
CA199853688
rs964730229
552 A>G No ClinGen
TOPMed
CA374947343
rs1291900719
552 A>S No ClinGen
TOPMed
rs1476721745
CA374947168
555 E>D No ClinGen
gnomAD
CA199853686
rs893611586
555 E>G No ClinGen
Ensembl
CA199853687
rs1010714502
555 E>K No ClinGen
gnomAD
CA374947157
rs1376579729
556 A>G No ClinGen
gnomAD
CA5247441
rs771249314
557 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA5247440
rs530994276
557 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA199853685
rs999847409
558 V>L No ClinGen
TOPMed
gnomAD
CA374947124
rs999847409
558 V>M No ClinGen
TOPMed
gnomAD
rs561975739
CA5247438
559 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1199260355
CA374947093
560 R>G No ClinGen
TOPMed
gnomAD
rs115851622
CA5247437
563 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1280206442
CA374947000
563 N>S No ClinGen
gnomAD
rs1280206442
CA374946998
563 N>T No ClinGen
gnomAD
rs1348822015
CA374946968
564 L>V No ClinGen
gnomAD
CA199853684
rs1046063862
566 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs754978264
CA5247435
566 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA374946912
rs1375847353
567 D>H No ClinGen
gnomAD
rs1336017958
CA374946841
569 M>T No ClinGen
gnomAD
CA374946771
rs1401479162
571 M>I No ClinGen
gnomAD
rs1158616246
CA374946762
572 H>Y No ClinGen
gnomAD
TCGA novel 573 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5247433
rs766314238
575 D>A No ClinGen
ExAC
gnomAD
CA199853683
rs947716661
575 D>N No ClinGen
TOPMed
gnomAD
rs1239589624
CA374946611
576 P>S No ClinGen
gnomAD
rs374596457
CA5247431
577 N>D No ClinGen
ESP
ExAC
TOPMed
TCGA novel 577 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374946588
rs1588148818
577 N>T No ClinGen
Ensembl
rs1588148813
CA374946546
578 L>R No ClinGen
Ensembl
CA374946540
rs1588148802
579 H>P No ClinGen
Ensembl
CA5247430
rs750226176
579 H>Y No ClinGen
ExAC
gnomAD
CA5247428
rs761497532
583 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA374946445
rs1277939529
584 G>D No ClinGen
TOPMed
CA374946460
rs1327190124
584 G>S No ClinGen
gnomAD
CA5247426
rs768241453
585 A>T No ClinGen
ExAC
gnomAD
rs1241045536
CA374946412
585 A>V No ClinGen
TOPMed
rs1357674150
CA374946397
586 P>S No ClinGen
gnomAD
rs1357674150
CA374946404
586 P>T No ClinGen
gnomAD
CA374946342
rs560007259
588 D>H No ClinGen
1000Genomes
ExAC
TOPMed
rs560007259
CA5247424
588 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
CA199853680
rs560007259
588 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
rs148561996
CA5247422
589 W>C No ClinGen
ESP
ExAC
gnomAD
CA5247423
rs141939389
589 W>L No ClinGen
ESP
ExAC
gnomAD
rs772289133
CA5247420
590 G>A No ClinGen
ExAC
gnomAD
CA5247421
rs778056027
590 G>S No ClinGen
ExAC
gnomAD
CA5247418
rs778990077
591 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778990077
CA199853679
591 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA374946198
rs1415591703
593 Y>H No ClinGen
gnomAD
rs545428563
CA199853678
594 S>N No ClinGen
1000Genomes
TOPMed
gnomAD
rs201626107
CA5247414
597 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1214458262
CA374946053
597 G>V No ClinGen
gnomAD
CA5247412
rs202172377
598 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA374946049
rs202172377
598 G>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5247410
rs751207485
599 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA5247411
rs751207485
599 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA5247408
rs762438907
600 G>A No ClinGen
ExAC
gnomAD
CA5247409
rs763807793
600 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA374945935
rs1441073820
602 P>L No ClinGen
gnomAD
CA374945896
rs1351231490
604 P>S No ClinGen
gnomAD
rs377673278
CA5247404
605 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5247403
rs761179641
605 S>N No ClinGen
ExAC
gnomAD
rs772381828
CA5247400
606 T>P No ClinGen
ExAC
CA5247399
rs144706217
607 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144706217
CA5247398
607 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369677680
CA374945794
608 E>D No ClinGen
ESP
TOPMed
gnomAD
CA374945784
COSM1314469
rs1273088198
609 S>L Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1221130428
CA374945779
610 A>P No ClinGen
gnomAD
CA199853675
rs953815241
611 T>A No ClinGen
TOPMed
rs368668074
CA5247396
613 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1230414074
CA374945660
615 K>Q No ClinGen
gnomAD
rs956182494
CA199853674
616 R>* No ClinGen
TOPMed
gnomAD
CA374945618
rs1296840465
616 R>L No ClinGen
TOPMed
gnomAD
CA374945625
rs1296840465
616 R>Q No ClinGen
TOPMed
gnomAD
CA374945606
rs745760357
617 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs745760357
CA5247393
617 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5247394
rs756007878
617 R>W No ClinGen
ExAC
TOPMed
gnomAD
COSM1206084
CA5247392
rs574662860
618 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs757157689
CA5247391
618 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5247389
rs763712715
619 A>T No ClinGen
ExAC
gnomAD
CA374945513
rs1388655929
621 Q>E No ClinGen
TOPMed
rs138795717
CA199853672
622 V>L No ClinGen
ESP
rs138795717
CA199853673
622 V>M No ClinGen
ESP
CA199853671
rs1004449875
624 S>C No ClinGen
TOPMed
CA5247387
rs372906105
625 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1564291808
CA374945322
628 D>E No ClinGen
Ensembl
rs1423162727
CA374945327
628 D>G No ClinGen
gnomAD
CA374945316
rs1190754375
629 E>G No ClinGen
gnomAD
CA5247385
rs193108069
631 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA374945253
rs1207001494
632 G>W No ClinGen
gnomAD
CA5247384
rs565794127
634 P>H No ClinGen
1000Genomes
ExAC
gnomAD
CA199853670
rs565794127
634 P>L No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 634 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1564291771
CA374945138
637 A>T No ClinGen
Ensembl
rs1045761065
CA199853669
638 S>R No ClinGen
TOPMed
rs767977239
CA5247383
642 P>S No ClinGen
ExAC
gnomAD
rs762228282
CA5247382
644 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1467060235
CA374944890
644 P>S No ClinGen
TOPMed
gnomAD
rs1298540817
CA374944864
645 A>V No ClinGen
TOPMed
gnomAD
rs552467244
CA5247379
647 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA374944800
rs769862019
648 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA374944825
rs1370350299
648 D>N No ClinGen
gnomAD
rs1175425003
CA374944752
651 T>I No ClinGen
gnomAD
rs757247618
CA5247374
652 E>G No ClinGen
ExAC
gnomAD
CA374944751
rs1401404117
652 E>K No ClinGen
gnomAD
CA199853668
rs539417380
653 I>F No ClinGen
1000Genomes
ExAC
gnomAD
rs777559244
CA5247372
653 I>S No ClinGen
ExAC
TOPMed
gnomAD
CA5247373
rs539417380
653 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA5247371
rs149367067
654 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5247370
rs752348939
654 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs754519412
CA5247368
655 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs1254216466
CA374944703
655 G>R No ClinGen
gnomAD
rs1054963926
CA199853667
656 L>Q No ClinGen
TOPMed
gnomAD
CA5247365
rs762246656
658 A>S No ClinGen
ExAC
gnomAD
CA199853666
rs1037408206
660 G>C No ClinGen
gnomAD
rs764477616
CA5247363
660 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs764477616
CA374944612
660 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs374739971
CA199853665
662 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374739971
CA5247361
662 R>Q Variant assessed as Somatic; 5.835e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5247362
rs763105834
662 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs770136344
CA5247360
663 P>L No ClinGen
ExAC
rs1157115339
CA374944585
664 E>K No ClinGen
TOPMed
gnomAD
CA5247359
rs759747875
665 S>G No ClinGen
ExAC
gnomAD
CA5247358
rs776796459
665 S>R No ClinGen
ExAC
gnomAD
CA374944557
rs1218723902
666 P>T No ClinGen
TOPMed
TCGA novel 667 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5247357
rs746906163
667 P>Q No ClinGen
ExAC
gnomAD
CA5247356
rs746906163
667 P>R No ClinGen
ExAC
gnomAD
rs1165176326
CA374944545
667 P>S No ClinGen
gnomAD
CA374944523
rs1249721709
669 A>T No ClinGen
gnomAD
rs1181223185
CA374944511
669 A>V No ClinGen
gnomAD
rs1313050195
CA374944493
670 G>D No ClinGen
TOPMed
gnomAD
rs61751870
CA5247354
COSM455364
670 G>S breast [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs561939837
CA5247353
671 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA374944475
rs1328026703
672 L>V No ClinGen
gnomAD
rs1564291596
CA374944458
673 L>F No ClinGen
Ensembl
CA374944441
rs1247394971
674 N>D No ClinGen
gnomAD
rs1320320548
CA374944434
674 N>S No ClinGen
gnomAD
CA374944402
rs1368040545
675 G>E No ClinGen
gnomAD
rs753357409
CA5247350
675 G>R No ClinGen
ExAC
gnomAD
TCGA novel 676 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 676 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1318594516
CA374944394
676 A>S No ClinGen
TOPMed
gnomAD
rs1318594516
CA374944398
676 A>T No ClinGen
TOPMed
gnomAD
rs1434513278
CA374944380
677 P>S No ClinGen
TOPMed
gnomAD
rs1434513278
CA374944384
677 P>T No ClinGen
TOPMed
gnomAD
CA374944367
rs779474504
678 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs779474504
CA5247349
678 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1459197750
CA374944348
679 G>E No ClinGen
gnomAD
rs986388865
CA199853663
680 E>D No ClinGen
TOPMed
gnomAD
rs1162769547
CA374944332
680 E>G No ClinGen
gnomAD
CA374944340
rs1366501155
680 E>K No ClinGen
gnomAD
CA199853662
rs754137868
681 S>I No ClinGen
Ensembl
rs11545938
CA199853661
681 S>R No ClinGen
Ensembl
CA199853660
rs914550442
682 P>S No ClinGen
Ensembl
CA199853659
rs34456155
684 P>L No ClinGen
Ensembl
CA5247348
rs757794622
684 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs752056887
CA5247347
685 K>N No ClinGen
ExAC
gnomAD
CA374944220
rs1314752944
686 A>T No ClinGen
TOPMed
CA5247345
rs548335804
687 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA374944188
rs1211283657
687 A>V No ClinGen
gnomAD
CA374944183
rs1487337466
688 P>A No ClinGen
gnomAD
CA5247343
rs765569017
689 E>K No ClinGen
ExAC
TOPMed
rs1229664414
CA374944155
689 E>V No ClinGen
gnomAD
CA5247342
rs759764034
690 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA374944143
rs759764034
690 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA374944119
rs1227696252
691 S>F No ClinGen
gnomAD
rs1331767928
CA374944102
692 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs368592407
CA5247337
693 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773237268
CA5247339
693 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA5247338
rs773237268
693 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA5247334
rs144973598
696 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA199853658
rs757748473
697 P>L No ClinGen
TOPMed
gnomAD
rs142795970
CA5247333
698 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1474763898
CA374943957
701 L>P No ClinGen
TOPMed
gnomAD
TCGA novel 702 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1004425358
CA199853657
703 P>S No ClinGen
TOPMed
gnomAD
CA374943918
rs1431071100
704 G>R No ClinGen
gnomAD
CA5247329
rs138757858
706 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138757858
CA5247328
706 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA374943867
rs138757858
706 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA374943854
rs1564291375
706 A>V No ClinGen
Ensembl
CA5247327
rs753109201
708 D>N No ClinGen
ExAC
gnomAD
CA5247326
rs765655789
710 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1248890502
CA374943725
711 P>S No ClinGen
gnomAD
rs759857601
CA5247325
712 P>R No ClinGen
ExAC
gnomAD
CA5247321
rs202140368
713 K>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs773156678
CA5247320
715 S>T No ClinGen
ExAC
gnomAD
rs761592691
CA5247318
716 D>N No ClinGen
ExAC
gnomAD
CA374943569
rs1410154652
717 Q>R No ClinGen
gnomAD
rs1352117009
CA374943430
720 G>R No ClinGen
TOPMed
gnomAD
rs1306041877
CA374941907
722 Q>* No ClinGen
gnomAD
CA374941889
rs1409284439
722 Q>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1483703974
CA374941901
722 Q>R No ClinGen
gnomAD
CA5247317
rs774165481
723 V>A No ClinGen
ExAC
gnomAD
TCGA novel 723 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1173786135
CA374941868
724 S>A No ClinGen
gnomAD
CA5247316
rs768392476
724 S>C No ClinGen
ExAC
gnomAD
rs1453810853
CA374941845
725 S>G No ClinGen
TOPMed
CA5247315
rs749061678
727 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA374941780
rs1182466211
728 S>R No ClinGen
gnomAD
CA199853653
rs886157167
729 H>Y No ClinGen
TOPMed
gnomAD
rs769327730
CA5247313
730 P>L No ClinGen
ExAC
gnomAD
CA5247311
rs187699931
731 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1344430685
CA374941701
732 L>R No ClinGen
gnomAD
rs1268942506
CA374941651
734 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1042198755
CA374941631
734 T>I No ClinGen
TOPMed
gnomAD
rs1042198755
CA199853652
734 T>S No ClinGen
TOPMed
gnomAD
CA374941560
rs1276071380
737 E>G No ClinGen
TOPMed
rs748553061
CA5247309
737 E>K No ClinGen
ExAC
gnomAD
TCGA novel 738 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374941534
rs1441254634
738 D>Y No ClinGen
gnomAD
rs1588148044
CA374941366
742 V>G No ClinGen
Ensembl
CA5247308
rs779538130
742 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs779538130
CA374941381
742 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs755431231
CA5247307
743 Q>R No ClinGen
ExAC
gnomAD
CA374941286
rs1393731348
745 E>A No ClinGen
TOPMed
gnomAD
rs1293211239
CA374941280
745 E>D No ClinGen
TOPMed
CA374941301
rs1393731348
745 E>V No ClinGen
TOPMed
gnomAD

No associated diseases with Q96TA1

1 regional properties for Q96TA1

Type Name Position InterPro Accession
domain Pleckstrin homology domain 68 - 192 IPR001849

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cytosol
  • Cell junction, adherens junction
  • Membrane ; Lipid-anchor
  • In exponentially growing cells, exclusively cytoplasmic
  • Cell membrane localization is observed when cells reach confluency and during telophase
  • In melanoma cells, targeting to the plasma membrane may be impaired by C-terminal phosphorylation
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
adherens junction A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules.
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.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name Definition
cadherin binding Binding to cadherin, a type I membrane protein involved in cell adhesion.
transcription coactivator activity A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.

15 GO annotations of biological process

Name Definition
axon guidance The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
gonadotropin secretion The regulated release of a gonadotropin, any hormone that stimulates the gonads, especially follicle-stimulating hormone and luteinizing hormone.
hypomethylation of CpG island An decrease in the epigenetic methylation of cytosine and adenosine residues in a CpG island in DNA. CpG islands are genomic regions that contain a high frequency of the CG dinucleotide and are often associated with the transcription start site of genes.
negative regulation of angiogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis.
negative regulation of apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of DNA biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of DNA biosynthetic process.
negative regulation of DNA-templated transcription Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of Notch signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of the Notch signaling pathway.
negative regulation of vascular endothelial growth factor receptor signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of vascular endothelial growth factor receptor signaling pathway activity.
positive regulation of DNA-templated transcription Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of embryonic development Any process that activates or increases the frequency, rate or extent of embryonic development.
positive regulation of skeletal muscle fiber development Any process that activates, maintains or increases the rate of skeletal muscle fiber development. Muscle fibers are formed by the maturation of myotubes. They can be classed as slow, intermediate/fast or fast.
positive regulation of transcription regulatory region DNA binding Any process that activates or increases the frequency, rate or extent of transcription regulatory region DNA binding.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q3UW53 Niban1 Protein Niban 1 Mus musculus (Mouse) PR
10 20 30 40 50 60
MGDVLSTHLD DARRQHIAEK TGKILTEFLQ FYEDQYGVAL FNSMRHEIEG TGLPQAQLLW
70 80 90 100 110 120
RKVPLDERIV FSGNLFQHQE DSKKWRNRFS LVPHNYGLVL YENKAAYERQ VPPRAVINSA
130 140 150 160 170 180
GYKILTSVDQ YLELIGNSLP GTTAKSGSAP ILKCPTQFPL ILWHPYARHY YFCMMTEAEQ
190 200 210 220 230 240
DKWQAVLQDC IRHCNNGIPE DSKVEGPAFT DAIRMYRQSK ELYGTWEMLC GNEVQILSNL
250 260 270 280 290 300
VMEELGPELK AELGPRLKGK PQERQRQWIQ ISDAVYHMVY EQAKARFEEV LSKVQQVQPA
310 320 330 340 350 360
MQAVIRTDMD QIITSKEHLA SKIRAFILPK AEVCVRNHVQ PYIPSILEAL MVPTSQGFTE
370 380 390 400 410 420
VRDVFFKEVT DMNLNVINEG GIDKLGEYME KLSRLAYHPL KMQSCYEKME SLRLDGLQQR
430 440 450 460 470 480
FDVSSTSVFK QRAQIHMREQ MDNAVYTFET LLHQELGKGP TKEELCKSIQ RVLERVLKKY
490 500 510 520 530 540
DYDSSSVRKR FFREALLQIS IPFLLKKLAP TCKSELPRFQ ELIFEDFARF ILVENTYEEV
550 560 570 580 590 600
VLQTVMKDIL QAVKEAAVQR KHNLYRDSMV MHNSDPNLHL LAEGAPIDWG EEYSNSGGGG
610 620 630 640 650 660
SPSPSTPESA TLSEKRRRAK QVVSVVQDEE VGLPFEASPE SPPPASPDGV TEIRGLLAQG
670 680 690 700 710 720
LRPESPPPAG PLLNGAPAGE SPQPKAAPEA SSPPASPLQH LLPGKAVDLG PPKPSDQETG
730 740
EQVSSPSSHP ALHTTTEDSA GVQTEF