Descriptions

Sterile alpha and Toll/interleukin receptor (TIR) motif-containing protein 1 (SARM1) regulates axon degeneration, functioning as a key player in the cellular processes involved in neurodegenerative diseases and nerve injury. The physical interaction between the autoinhibitory Armadillo/HEAT motif (ARM) and catalytic Toll/interleukin-1 receptor (TIR) domains blocks the NAD hydrolase activity of SARM1. The autoinhibited TIR domain is activated upon axon injury, activating its NAD+ hydrolase activity and enabling TIR-dependent neuronal destruction.

Autoinhibitory domains (AIDs)

Target domain

560-703 (TIR domain)

Relief mechanism

Others

Assay

Deletion assay, Mutagenesis experiment, Structural analysis

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

39 structures for Q6SZW1

Entry ID Method Resolution Chain Position Source
6O0Q X-ray 180 A A/B 560-700 PDB
6O0R X-ray 180 A A/B 560-700 PDB
6O0S X-ray 270 A A/B/C/D/E/F/G/H 409-561 PDB
6O0T X-ray 280 A A/B/C/D/E/F/G/H 409-561 PDB
6O0U X-ray 303 A A/B 560-700 PDB
6O0V X-ray 207 A A/B/C/D 560-700 PDB
6O1B X-ray 167 A A 560-700 PDB
6QWV X-ray 247 A A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P 387-548 PDB
6WPK EM 330 A A/B/C/D/E/F/G/H 49-724 PDB
6ZFX EM 288 A A/B/C/D/E/F/G/H 26-724 PDB
6ZG0 EM 770 A A/B/C/D/E/F/G/H 26-724 PDB
6ZG1 EM 377 A A/B/C/D/E/F/G/H 387-548 PDB
7ANW EM 268 A A/B/C/D/E/F/G/H 26-724 PDB
7CM5 EM 260 A A/B/C/D/E/F/G/H 1-724 PDB
7CM6 EM 300 A A/B/C/D/E/F/G/H 1-724 PDB
7CM7 EM 260 A A/B/C/D/E/F/G/H 1-724 PDB
7DJT EM 280 A A/B/C/D/E/F/G/H 27-724 PDB
7KNQ EM 340 A A/B/C/D/E/F/G/H 1-724 PDB
7LD0 EM 310 A A/B/C/D/E/F/G/H 28-724 PDB
7NAG X-ray 172 A A/B 560-700 PDB
7NAH X-ray 179 A A/B 560-700 PDB
7NAI X-ray 174 A A/B 560-700 PDB
7NAJ X-ray 160 A A/B 560-700 PDB
7NAK EM 290 A A/B/C/D/E/F/G/H 28-724 PDB
7NAL EM 300 A A/B/C/D/E/F/G/H 28-724 PDB
7QG0 EM 402 A A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P 26-724 PDB
8D0C X-ray 209 A A/B 558-700 PDB
8D0D X-ray 196 A A/B 558-700 PDB
8D0E X-ray 188 A A/B 558-700 PDB
8D0F X-ray 174 A A/B 558-700 PDB
8D0G X-ray 199 A A/B 558-700 PDB
8D0H X-ray 237 A A/B 558-700 PDB
8D0I X-ray 200 A A/B 558-700 PDB
8D0J X-ray 194 A A/B 558-700 PDB
8GNI EM 374 A A/B 1-724 PDB
8GNJ EM 378 A A/B 1-724 PDB
8GQ5 EM 270 A A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P 1-724 PDB
8P2L EM 268 A A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P 26-570 PDB
AF-Q6SZW1-F1 Predicted AlphaFoldDB

674 variants for Q6SZW1

Variant ID(s) Position Change Description Diseaes Association Provenance
rs144613221
RCV001260208
CA8457913
501 Y>H Amyotrophic lateral sclerosis [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs886052741
CA10639232
RCV000317240
666 Q>H Congenital defect of folate absorption [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs782774927
CA8458037
RCV000371910
672 M>V Congenital defect of folate absorption [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV001127834
rs372946020
CA8458079
697 R>G Congenital defect of folate absorption [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA8458097
RCV000399865
rs146812537
719 A>V Congenital defect of folate absorption [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1490277771 1 M>? Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
CA398324643
rs868959696
3 L>M No ClinGen
Ensembl
rs782586056
CA289096856
4 T>A No ClinGen
ExAC
gnomAD
rs1597813510
CA398324659
4 T>M No ClinGen
Ensembl
CA398324706
rs1283643256
8 S>F No ClinGen
TOPMed
gnomAD
rs1224579416
CA398324710
9 A>P No ClinGen
TOPMed
gnomAD
CA398324726
rs1555584089
10 Y>C No ClinGen
gnomAD
rs868954301
CA289096858
10 Y>H No ClinGen
gnomAD
rs1555584091
CA398324772
13 C>W No ClinGen
gnomAD
CA398324782
rs1555584092
14 R>H No ClinGen
gnomAD
rs782640296
CA289096862
16 F>L No ClinGen
ExAC
rs782269124
CA289096864
17 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA289096867
rs782351870
17 A>V No ClinGen
ExAC
gnomAD
rs1555584094
CA398324836
18 M>I No ClinGen
gnomAD
CA398324829
rs1273249300
18 M>L No ClinGen
TOPMed
CA398324832
rs1221492667
18 M>T No ClinGen
TOPMed
rs782616436
CA289096872
20 G>C No ClinGen
ExAC
gnomAD
CA398324857
rs1555584099
20 G>D No ClinGen
gnomAD
rs782616436
CA289096874
20 G>S No ClinGen
ExAC
gnomAD
rs782021842
CA289096886
21 P>Q No ClinGen
ExAC
gnomAD
rs1555584101
CA398324864
21 P>T No ClinGen
gnomAD
CA398324876
rs782169698
22 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA398324882
rs782388206
22 R>L No ClinGen
ExAC
gnomAD
CA289096894
rs782388206
22 R>P No ClinGen
ExAC
gnomAD
CA398324880
rs782388206
22 R>Q No ClinGen
ExAC
gnomAD
CA289096889
rs782169698
22 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA658682948
rs7212814
23 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398324889
rs7212814
23 P>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_061702
rs7212814
CA289096918
23 P>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs782100517
CA289096916
23 P>S No ClinGen
ExAC
gnomAD
rs782100517
CA398324885
23 P>T No ClinGen
ExAC
gnomAD
CA398324895
rs1555584107
24 G>C No ClinGen
gnomAD
CA289096921
rs552929140
24 G>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1555584107
CA398324893
24 G>S No ClinGen
gnomAD
rs782525192
CA289096927
25 A>S No ClinGen
ExAC
gnomAD
CA289096925
rs782525192
25 A>T No ClinGen
ExAC
gnomAD
CA289096930
rs781845348
26 E>* No ClinGen
ExAC
gnomAD
rs1555584112
CA398324933
26 E>D No ClinGen
gnomAD
rs781845348
CA398324919
26 E>K No ClinGen
ExAC
gnomAD
CA398324963
rs1409753403
29 A>G No ClinGen
TOPMed
gnomAD
CA398324965
rs1409753403
29 A>V No ClinGen
TOPMed
gnomAD
CA398324974
rs1555584117
30 V>G No ClinGen
gnomAD
CA289096938
rs957963171
30 V>M No ClinGen
Ensembl
CA398324980
rs1555584120
31 P>S No ClinGen
gnomAD
CA398324997
rs1170377798
32 G>A No ClinGen
TOPMed
rs1555584121
CA398324989
32 G>R No ClinGen
gnomAD
CA289096939
rs56951297
34 D>Y No ClinGen
Ensembl
CA398325032
rs1480321233
35 G>E No ClinGen
TOPMed
CA398325049
rs1430405423
37 G>S No ClinGen
TOPMed
gnomAD
CA398325059
rs1597813664
37 G>V No ClinGen
Ensembl
CA289096941
rs988047470
39 T>M No ClinGen
gnomAD
rs1567803580
CA398325073
39 T>S No ClinGen
Ensembl
CA289096948
rs186729002
42 W>L No ClinGen
1000Genomes
CA289096944
rs913719958
42 W>R No ClinGen
TOPMed
rs1487575967
CA398325146
44 A>G No ClinGen
TOPMed
CA289096951
rs782593684
45 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs782593684
CA398325149
45 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1555584127
CA398325157
45 A>V No ClinGen
gnomAD
CA398325176
rs1555584129
47 G>A No ClinGen
gnomAD
rs868975302
CA919820300
49 G>R No ClinGen
Ensembl
rs1276773183
CA2254276049
50 P>A No ClinGen
TOPMed
rs1276773183
CA727731909
50 P>S No ClinGen
TOPMed
rs782566300
CA2254276055
51 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs782566300
CA289096965
51 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs554949758
CA289096969
52 E>Q No ClinGen
ExAC
rs538665060
CA289096974
54 S>L No ClinGen
1000Genomes
CA398325206
rs1322636333
55 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1283655216
CA398325209
56 G>R No ClinGen
TOPMed
rs1225331114
CA398325223
57 A>S No ClinGen
TOPMed
CA398325221
rs1225331114
57 A>T No ClinGen
TOPMed
CA289096979
rs981850967
58 G>S No ClinGen
Ensembl
rs1430832648
CA398325246
60 E>K No ClinGen
TOPMed
gnomAD
rs1430832648
CA398325248
60 E>Q No ClinGen
TOPMed
gnomAD
rs937668150
CA289096991
61 V>E No ClinGen
TOPMed
rs1334350421
CA398325262
61 V>M No ClinGen
TOPMed
CA289096994
rs781920108
62 Q>R No ClinGen
ExAC
gnomAD
CA398325367
rs1419459913
68 A>E No ClinGen
TOPMed
rs2285408
CA289096996
68 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 68 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1476467173
CA398325383
70 P>A No ClinGen
TOPMed
gnomAD
rs888141305
CA289096997
70 P>R No ClinGen
Ensembl
CA398325431
rs1183268152
73 Q>P No ClinGen
TOPMed
CA398325440
rs1461926584
74 Q>* No ClinGen
TOPMed
CA398325463
rs1555584155
75 A>D No ClinGen
gnomAD
CA398325458
rs1265178102
75 A>S No ClinGen
TOPMed
TCGA novel 75 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA398325556
rs1215073393
83 G>D No ClinGen
TOPMed
gnomAD
rs1555584159
CA398325562
84 G>S No ClinGen
gnomAD
CA289097012
rs901335526
85 A>S No ClinGen
TOPMed
gnomAD
rs1312241107
CA398325580
86 R>Q No ClinGen
TOPMed
CA289097015
rs998771132
87 A>T No ClinGen
Ensembl
CA398325601
rs1555584160
CA398325599
88 V>L No ClinGen
gnomAD
rs1460789682
CA398325627
91 G>D No ClinGen
TOPMed
rs1460789682
CA398325630
91 G>V No ClinGen
TOPMed
CA398325634
rs1171817944
92 L>V No ClinGen
TOPMed
TCGA novel 94 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1183093159
CA398325666
94 E>G No ClinGen
TOPMed
TCGA novel 94 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA398325726
rs1555584166
99 V>L No ClinGen
gnomAD
rs1555584172
CA398325786
103 W>C No ClinGen
gnomAD
CA398325778
rs1555584169
103 W>G No ClinGen
gnomAD
rs782028902
CA289097017
103 W>L No ClinGen
ExAC
CA398325825
rs1555584180
107 A>V No ClinGen
gnomAD
rs1555584184
CA398325830
108 V>M No ClinGen
gnomAD
rs782105063
CA289097030
109 G>C No ClinGen
ExAC
gnomAD
rs782798088
CA289097034
110 R>C No ClinGen
ExAC
gnomAD
rs1555584186
CA398325857
111 E>K No ClinGen
gnomAD
CA398325879
rs1176943109
112 V>A No ClinGen
TOPMed
CA289097054
rs1032963037
112 V>I No ClinGen
TOPMed
rs1555584188
CA398325887
113 A>D No ClinGen
gnomAD
rs575653548
CA289097059
113 A>T No ClinGen
1000Genomes
CA398325904
rs1479570257
114 Q>H No ClinGen
TOPMed
gnomAD
CA398325943
rs1232087262
117 C>* No ClinGen
TOPMed
CA398325956
rs1567803748
118 D>E No ClinGen
Ensembl
rs1205182747
CA398325948
118 D>H No ClinGen
TOPMed
rs1309162546
CA398325975
120 I>F No ClinGen
TOPMed
rs1289442893
CA398325994
121 R>L No ClinGen
TOPMed
CA398325996
rs1244639440
122 L>F No ClinGen
TOPMed
CA398326024
rs1555584195
124 G>S No ClinGen
gnomAD
rs1359449112
CA398326073
127 D>E No ClinGen
TOPMed
gnomAD
rs1555584199
CA398326089
129 L>V No ClinGen
gnomAD
rs1555584203
CA398326119
131 R>Q No ClinGen
gnomAD
CA398326143
rs1373109175
133 L>Q No ClinGen
TOPMed
gnomAD
CA289097062
rs781961753
134 Q>R No ClinGen
ExAC
gnomAD
rs1299083444
CA398326179
136 P>Q No ClinGen
TOPMed
gnomAD
rs1299083444
CA398326180
136 P>R No ClinGen
TOPMed
gnomAD
rs1555584210
CA398326193
137 E>G No ClinGen
gnomAD
CA398326203
rs1555584211
138 L>V No ClinGen
gnomAD
rs1555584212
CA398326214
139 E>K No ClinGen
gnomAD
rs1555584213
CA398326231
140 T>P No ClinGen
gnomAD
TCGA novel 141 R>C Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
CA398326259
rs1555584215
142 V>A No ClinGen
gnomAD
CA289097063
rs956063846
142 V>L No ClinGen
gnomAD
CA398326271
rs370967865
143 Q>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370967865
CA289097064
143 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA289097070
rs970546135
145 A>G No ClinGen
TOPMed
gnomAD
CA398326295
rs970546135
145 A>V No ClinGen
TOPMed
gnomAD
TCGA novel 146 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs772299091
CA289097081
150 Q>H No ClinGen
Ensembl
CA398326374
rs1387150811
152 L>V No ClinGen
TOPMed
gnomAD
TCGA novel 155 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs982371779
CA289097086
157 R>* No ClinGen
TOPMed
CA398326435
rs1555584221
157 R>P No ClinGen
gnomAD
CA398327523
rs538784770
159 R>H No ClinGen
1000Genomes
ExAC
gnomAD
rs538784770
CA289101837
159 R>P No ClinGen
1000Genomes
ExAC
gnomAD
CA398327526
rs1555585152
160 V>M No ClinGen
gnomAD
rs1555585154
CA398327535
161 A>T No ClinGen
gnomAD
TCGA novel 162 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs893364527
CA289101840
163 I>F No ClinGen
Ensembl
rs1555585157
CA398327555
163 I>T No ClinGen
gnomAD
rs893364527
CA289101839
163 I>V No ClinGen
Ensembl
CA398327599
rs1332818278
166 G>A No ClinGen
TOPMed
gnomAD
rs1332818278
CA398327595
166 G>V No ClinGen
TOPMed
gnomAD
CA289101854
rs781834636
167 V>E No ClinGen
ExAC
gnomAD
rs1555585163
CA398327647
170 N>H No ClinGen
gnomAD
rs1567806541
CA398327694
172 A>V No ClinGen
Ensembl
rs1555585165
CA398327719
174 E>Q No ClinGen
gnomAD
CA289101860
rs782715579
175 R>C No ClinGen
ExAC
gnomAD
CA398327780
rs1381539904
177 P>R No ClinGen
TOPMed
CA398327791
rs1555585170
178 V>L No ClinGen
gnomAD
rs781870467
CA289101878
179 E>D No ClinGen
ExAC
gnomAD
CA398327846
rs1597817905
181 A>G No ClinGen
Ensembl
CA398327838
rs1467944039
181 A>P No ClinGen
TOPMed
gnomAD
rs1467944039
CA398327836
181 A>T No ClinGen
TOPMed
gnomAD
TCGA novel 181 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1020868292
CA289101883
182 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1555585173
CA398327851
182 R>W No ClinGen
gnomAD
rs782468627
CA289101891
183 S>R No ClinGen
ExAC
CA289101908
rs71373646
184 V>G No ClinGen
1000Genomes
ESP
ExAC
rs386796348
CA919820454
184 V>GS No ClinGen
Ensembl
rs903386094
CA289101907
184 V>L No ClinGen
TOPMed
CA289101910
rs71373647
185 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs71373647
CA727736854
185 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 186 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA398327924
rs1250029233
187 I>N No ClinGen
TOPMed
rs1461091216
CA398327992
190 H>D No ClinGen
TOPMed
rs782377042
CA289101926
190 H>R No ClinGen
ExAC
gnomAD
rs782093856
CA289101930
191 M>I No ClinGen
ExAC
gnomAD
rs782304632
CA289101931
192 F>L No ClinGen
ExAC
gnomAD
rs1555585182
CA398328081
193 K>R No ClinGen
gnomAD
rs1555585185
CA398328138
195 S>L No ClinGen
gnomAD
TCGA novel 196 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 197 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
CA398328204
rs1202333892
198 T>I No ClinGen
TOPMed
gnomAD
rs1002924966
CA289101940
199 C>F No ClinGen
TOPMed
gnomAD
CA398328218
rs1555585188
199 C>R No ClinGen
gnomAD
rs1035779951
CA289101942
199 C>W No ClinGen
TOPMed
gnomAD
CA398328236
rs1555585189
200 Q>* No ClinGen
gnomAD
rs138813409
CA289101954
201 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs555253295
CA289101962
202 L>R No ClinGen
1000Genomes
ExAC
gnomAD
CA289101965
rs140424050
203 V>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398328342
rs1449823743
204 A>G No ClinGen
TOPMed
rs1555585196
CA398328332
204 A>T No ClinGen
gnomAD
TCGA novel 205 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA398328369
rs1555585199
206 G>S No ClinGen
gnomAD
rs1555585201
CA398328427
209 D>G No ClinGen
gnomAD
CA398328436
rs879956377
210 A>S No ClinGen
Ensembl
CA398328453
rs1555585203
211 V>L No ClinGen
gnomAD
CA398328484
rs1415779571
213 Y>C No ClinGen
TOPMed
rs962931921
CA289101973
215 C>Y No ClinGen
Ensembl
rs1555585206
CA398328552
216 R>C No ClinGen
gnomAD
CA398328569
rs1555585207
217 R>C No ClinGen
gnomAD
rs367907099
CA289101975
217 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs371692238
CA289101978
218 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs371692238
CA398328588
218 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398328592
rs371692238
218 T>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA289101981
rs782546001
222 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1555585214
CA398328657
224 R>S No ClinGen
gnomAD
rs1555585216
CA398328688
225 H>P No ClinGen
gnomAD
rs951218681
CA289101988
226 C>R No ClinGen
Ensembl
rs1555585220
CA398328724
227 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1555585223
CA398328775
231 G>D No ClinGen
gnomAD
CA398328786
rs1204171820
232 N>S No ClinGen
TOPMed
gnomAD
rs1555585227
CA398328825
234 A>S No ClinGen
gnomAD
rs1555585227
CA398328817
234 A>T No ClinGen
gnomAD
CA289101992
rs782269035
234 A>V No ClinGen
ExAC
gnomAD
CA398328862
rs986488733
236 H>Q No ClinGen
TOPMed
gnomAD
CA289102000
rs782357936
237 G>W No ClinGen
ExAC
gnomAD
rs782567398
CA398328892
238 G>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782567398
CA398328890
238 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs782567398
CA289102005
238 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1555585236
CA398328904
239 Q>R No ClinGen
gnomAD
rs1449836804
CA398328915
240 A>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1555585238
CA398328913
240 A>T No ClinGen
gnomAD
rs1333588274
CA398328920
241 V>M No ClinGen
TOPMed
gnomAD
rs1307877515
CA398328954
242 Q>P No ClinGen
TOPMed
CA398328960
rs1567806732
243 R>G No ClinGen
Ensembl
CA289102010
rs576847785
244 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1301838832
CA398328985
245 M>L No ClinGen
TOPMed
CA398329005
rs1555585240
246 V>A No ClinGen
gnomAD
rs544008809
CA289102013
249 R>C No ClinGen
1000Genomes
rs1555585243
CA398329036
250 A>T No ClinGen
gnomAD
rs374789573
CA398329055
252 E>* No ClinGen
ESP
TOPMed
gnomAD
CA289102018
rs374789573
252 E>K No ClinGen
ESP
TOPMed
gnomAD
rs1555585245
CA398329071
253 W>* No ClinGen
gnomAD
rs368596957
CA289102032
256 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1555585248
CA398329088
256 P>S No ClinGen
gnomAD
CA398329164
rs782385813
263 D>E No ClinGen
ExAC
gnomAD
CA398329155
rs1555585250
263 D>N No ClinGen
gnomAD
CA398329163
rs1555585251
263 D>V No ClinGen
gnomAD
CA289102055
rs782106258
264 E>V No ClinGen
ExAC
rs782706352
CA289102060
265 L>M No ClinGen
ExAC
gnomAD
CA289102068
rs781946234
266 L>I No ClinGen
ExAC
CA289102085
rs11652384
267 R>P No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA398329202
rs11652384
267 R>Q No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs70956802
CA919820460
267 R>S No ClinGen
Ensembl
rs11658194
CA289102077
267 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1555585260
CA398329208
268 L>M No ClinGen
gnomAD
CA289102089
rs781855136
269 H>D No ClinGen
ExAC
gnomAD
rs781855136
CA289102087
269 H>N No ClinGen
ExAC
gnomAD
rs782733803
CA289102094
269 H>P No ClinGen
ExAC
CA289102104
rs781788541
269 H>Q No ClinGen
ExAC
gnomAD
rs1555585262
CA398329227
270 A>D No ClinGen
gnomAD
rs782453628
CA289102116
270 A>S No ClinGen
ExAC
gnomAD
CA289102112
rs782453628
270 A>T No ClinGen
ExAC
gnomAD
rs782488618
CA289102133
273 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA398329254
rs782488618
273 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs376587698
CA398329277
275 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA289102143
rs782203639
275 A>T No ClinGen
ExAC
gnomAD
rs376587698
CA289102151
275 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1555585268
CA398329301
278 A>T No ClinGen
gnomAD
CA398329306
rs1348171410
278 A>V No ClinGen
TOPMed
CA398329330
rs1555585271
280 N>K No ClinGen
gnomAD
rs782411598
CA289102161
280 N>S No ClinGen
ExAC
gnomAD
rs1555585272
CA398329334
281 K>E No ClinGen
gnomAD
rs782032148
CA289102162
281 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1555585275
CA398329355
282 E>D No ClinGen
gnomAD
CA398329359
rs1555585276
283 V>M No ClinGen
gnomAD
rs782115117
CA289102167
284 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA398329380
rs782772441
285 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA398329379
rs782772441
285 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA398329384
rs1555585278
285 R>L No ClinGen
gnomAD
CA289102170
rs782772441
285 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA289102176
rs782047905
286 E>Q No ClinGen
ExAC
gnomAD
rs1555585286
CA398329404
287 V>A No ClinGen
gnomAD
TCGA novel
rs1042000746
CA398329400
287 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
ClinGen
TOPMed
CA289102183
rs1042000746
287 V>M No ClinGen
TOPMed
CA289102188
rs782711704
288 E>K No ClinGen
ExAC
CA398329421
rs1555585288
289 R>C No ClinGen
gnomAD
rs781886204
CA289102193
289 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA289102196
rs781886204
289 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA398329424
rs781886204
289 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs782769243
CA289102199
290 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA289102198
rs782769243
290 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA398329434
rs1567806862
291 G>S No ClinGen
Ensembl
rs1555585295
CA398329456
293 L>P No ClinGen
gnomAD
rs372349604
CA289102200
294 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372349604
CA398329465
294 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1555585297
CA398329472
295 L>F No ClinGen
gnomAD
rs1555585299
CA398329478
296 V>M No ClinGen
gnomAD
rs1555585300
CA398329491
297 E>A No ClinGen
gnomAD
rs1555585302
CA398329499
298 P>S No ClinGen
gnomAD
rs782606059
CA289102213
301 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs782186429
CA289102218
304 D>E No ClinGen
ExAC
gnomAD
CA289102223
rs1013028737
306 G>V No ClinGen
TOPMed
rs1016678586
CA398329588
307 R>H No ClinGen
TOPMed
gnomAD
CA398329587
rs1016678586
307 R>L No ClinGen
TOPMed
gnomAD
rs1016678586
CA289102224
307 R>P No ClinGen
TOPMed
gnomAD
CA289102226
rs963416117
308 F>L No ClinGen
Ensembl
rs1555585311
CA398329602
309 A>T No ClinGen
gnomAD
CA289102230
rs995788726
309 A>V No ClinGen
TOPMed
rs782675051
CA289102232
310 R>C No ClinGen
ExAC
gnomAD
CA289102234
rs369186722
310 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1555585312
CA398329624
311 C>Y No ClinGen
gnomAD
rs782661360
CA289102242
313 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA398329640
rs1597818355
313 V>M No ClinGen
Ensembl
rs951188002
CA289102244
315 A>T No ClinGen
TOPMed
gnomAD
CA289102249
rs782211561
316 S>G No ClinGen
ExAC
gnomAD
rs782362670
CA289102257
316 S>R No ClinGen
ExAC
gnomAD
CA398329694
rs1277127878
318 T>A No ClinGen
TOPMed
gnomAD
rs1555585316
CA398329700
318 T>I No ClinGen
gnomAD
TCGA novel 320 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1567806942
CA398329740
322 R>G No ClinGen
Ensembl
rs782422254
CA8457790
322 R>L No ClinGen
ExAC
gnomAD
CA398329744
rs1429193575
323 G>R No ClinGen
TOPMed
gnomAD
rs1555585318
CA398329761
324 P>L No ClinGen
gnomAD
rs868921475
CA398329756
324 P>T No ClinGen
Ensembl
rs868944204
CA398329767
325 D>Y No ClinGen
Ensembl
rs1555585320
CA398329782
326 D>A No ClinGen
gnomAD
rs868955276
CA398329780
326 D>Y No ClinGen
Ensembl
rs868924014
CA398329811
328 Q>H No ClinGen
Ensembl
rs782715279
CA8457793
329 R>C No ClinGen
ExAC
gnomAD
rs868933164
CA398329819
329 R>L No ClinGen
gnomAD
CA398329812
rs782715279
329 R>S No ClinGen
ExAC
gnomAD
CA398329821
rs868991872
330 L>F No ClinGen
gnomAD
CA398329825
rs868991872
330 L>I No ClinGen
gnomAD
rs1404173387
CA398329828
330 L>R No ClinGen
TOPMed
rs1555585331
CA398329837
331 V>E No ClinGen
gnomAD
CA398329833
rs1413711851
331 V>L No ClinGen
TOPMed
rs140811640
CA8457794
332 P>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140811640
CA398329844
332 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs868935674
CA398329842
332 P>S No ClinGen
Ensembl
rs1555585335
CA398329888
336 S>C No ClinGen
gnomAD
rs375690432
CA8457795
337 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398329906
rs1246926309
338 R>C No ClinGen
TOPMed
CA398329916
rs1555585343
339 L>S No ClinGen
gnomAD
CA289102342
rs781854217
340 E>K No ClinGen
TOPMed
gnomAD
rs373458416
CA8457797
341 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373458416
CA8457796
341 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs571589599
CA398329980
CA8457799
345 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8457800
rs781882550
346 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA398329988
rs781882550
346 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA289102354
rs530896320
348 Y>C No ClinGen
TOPMed
gnomAD
CA398330025
rs1597818474
349 L>H No ClinGen
Ensembl
TCGA novel 350 C>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 351 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1437344796
CA398330078
353 A>V No ClinGen
TOPMed
rs1555585348
CA398330079
354 A>T No ClinGen
gnomAD
rs782487571
CA8457803
355 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA398330120
rs1359546788
357 S>N No ClinGen
TOPMed
gnomAD
rs1555585352
CA398330132
358 L>R No ClinGen
gnomAD
rs1427817559
CA398330150
360 G>D No ClinGen
TOPMed
rs539040757
CA8457804
360 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398330165
rs1555585357
361 K>N No ClinGen
gnomAD
TCGA novel 362 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA8457805
rs550771122
363 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1555585623
CA398330912
364 V>M No ClinGen
gnomAD
CA8457816
rs782804317
366 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA398330937
rs1555585624
366 S>R No ClinGen
gnomAD
rs1157622143
CA398330954
368 I>V No ClinGen
TOPMed
CA398330983
rs1408893846
371 I>F No ClinGen
TOPMed
CA398330988
rs1179014253
371 I>M No ClinGen
TOPMed
rs782437027
CA8457821
375 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA8457822
rs539545773
376 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs782642684
CA8457825
378 V>A No ClinGen
ExAC
gnomAD
rs782506925
CA8457824
378 V>F No ClinGen
ExAC
CA398331050
rs1555585631
381 S>C No ClinGen
gnomAD
rs782215392
CA8457826
383 N>D No ClinGen
ExAC
gnomAD
rs1567807787
CA398331069
383 N>K No ClinGen
Ensembl
CA289103521
rs782213378
384 G>S No ClinGen
Ensembl
rs147409181
CA8457827
385 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398331122
rs1236874116
388 A>V No ClinGen
TOPMed
gnomAD
CA398331167
rs782190284
393 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs782190284
CA8457830
393 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA398331171
rs1555585637
393 A>V No ClinGen
gnomAD
rs369804438
CA8457833
395 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369804438
CA398331178
395 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1555585639
CA398331207
397 L>P No ClinGen
gnomAD
CA398331218
rs1224966697
398 G>D No ClinGen
TOPMed
rs1567807811
CA398331211
398 G>S No ClinGen
Ensembl
rs375645219
CA8457836
399 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782706244
CA398331287
403 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA8457837
rs782706244
403 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA289103653
rs927078089
405 I>T No ClinGen
Ensembl
rs782747899
CA8457840
407 P>L No ClinGen
ExAC
CA8457839
rs782155689
407 P>T No ClinGen
ExAC
gnomAD
rs113535815
CA398331355
408 S>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs113535815
CA8457841
408 S>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398331364
rs1555585643
409 V>M No ClinGen
gnomAD
TCGA novel 411 S>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs782463409
CA8457842
411 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA398331415
rs1346323012
412 W>R No ClinGen
TOPMed
rs1555585649
CA398331469
414 E>K No ClinGen
Ensembl
rs1452683355
CA398331521
415 A>V No ClinGen
TOPMed
rs147156050
CA8457844
416 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781788842
CA8457845
417 V>F No ClinGen
ExAC
gnomAD
CA398331573
rs1194545365
418 Q>H No ClinGen
TOPMed
gnomAD
CA289103665
rs907646354
418 Q>L No ClinGen
Ensembl
CA8457846
rs782453427
419 T>R No ClinGen
ExAC
gnomAD
rs782670194
CA8457847
420 W>R No ClinGen
ExAC
gnomAD
rs1597819667
CA398331613
422 Q>E No ClinGen
Ensembl
rs1597819673
CA398331616
422 Q>P No ClinGen
Ensembl
rs782294365
CA8457848
423 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1555585653
CA398331645
424 I>V No ClinGen
gnomAD
rs1555585655
CA398331664
425 G>C No ClinGen
gnomAD
rs782642144
CA398331666
425 G>D No ClinGen
ExAC
gnomAD
rs1555585655
CA398331662
425 G>S No ClinGen
gnomAD
rs782642144
CA8457850
425 G>V No ClinGen
ExAC
gnomAD
rs1555585658
CA398331687
426 F>L No ClinGen
gnomAD
CA8457854
rs781927743
430 C>* No ClinGen
ExAC
TOPMed
gnomAD
rs782366602
CA8457852
430 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1555585662
CA398331758
431 E>G No ClinGen
gnomAD
rs137938585
CA8457855
431 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs137938585
CA8457856
431 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1302026991
CA398331775
432 S>N No ClinGen
TOPMed
gnomAD
rs782121648
CA8457857
433 F>S No ClinGen
ExAC
TOPMed
gnomAD
rs1555585664
CA398331791
434 R>W No ClinGen
gnomAD
rs782384126
CA8457873
435 E>K No ClinGen
ExAC
gnomAD
rs1157884248
CA398331881
435 E>V No ClinGen
TOPMed
gnomAD
CA398331896
rs1555585731
436 Q>L No ClinGen
gnomAD
CA8457874
rs782585352
439 D>H No ClinGen
ExAC
gnomAD
rs1470215238
CA398331942
440 G>C No ClinGen
TOPMed
gnomAD
rs1555585736
CA398331956
441 D>N No ClinGen
gnomAD
rs782304965
CA8457876
445 R>W No ClinGen
ExAC
gnomAD
rs1191400920
CA398332079
447 T>K No ClinGen
TOPMed
gnomAD
rs1555585741
CA398332087
448 E>A No ClinGen
gnomAD
rs374600669
CA289103937
449 E>K No ClinGen
ESP
TOPMed
gnomAD
rs1254087263
CA398332137
450 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA398332167
rs1224262889
451 L>V No ClinGen
TOPMed
rs539075656
CA289103940
452 Q>* No ClinGen
1000Genomes
gnomAD
TCGA novel 454 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs781938186
CA289103946
455 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs1284219030
CA398332277
455 L>R No ClinGen
TOPMed
gnomAD
rs140340827
CA8457878
456 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398332310
rs1356011215
457 M>R No ClinGen
TOPMed
CA398332434
rs1597819967
462 T>P No ClinGen
Ensembl
rs868944042
CA398332461
463 R>G No ClinGen
gnomAD
CA398332464
rs868978881
463 R>H No ClinGen
Ensembl
CA398332455
rs868944042
463 R>S No ClinGen
gnomAD
CA398332502
rs1276762560
464 K>N No ClinGen
TOPMed
rs781991419
CA8457880
464 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA398332513
rs1438380057
465 R>K No ClinGen
TOPMed
CA398332602
rs1210258116
465 R>S No ClinGen
TOPMed
gnomAD
rs1348632392
CA398332605
466 F>I No ClinGen
TOPMed
rs1281018438
CA398332626
CA398332630
466 F>L No ClinGen
TOPMed
gnomAD
CA398332777
rs1555585800
472 E>K No ClinGen
gnomAD
rs1213001324
CA398332822
473 L>I No ClinGen
TOPMed
rs1597820055
CA398332872
474 K>Q No ClinGen
Ensembl
CA398332908
rs782150304
475 T>I No ClinGen
ExAC
gnomAD
CA8457901
rs782150304
475 T>N No ClinGen
ExAC
gnomAD
rs1597820059
CA398332895
475 T>P No ClinGen
Ensembl
rs782771413
CA8457902
476 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1555585804
CA398332953
478 N>S No ClinGen
gnomAD
CA398332946
rs1555585804
478 N>T No ClinGen
gnomAD
CA398332977
rs1342310307
479 Y>N No ClinGen
TOPMed
CA8457904
rs142415096
480 S>A No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 480 S>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs142415096
CA398333002
480 S>P No ClinGen
1000Genomes
ExAC
gnomAD
rs782741116
CA8457905
481 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA8457906
rs377210302
483 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398333128
rs1555585809
484 R>C No ClinGen
gnomAD
rs1555585813
CA398333134
484 R>L No ClinGen
gnomAD
CA398333145
rs1359186464
485 S>T No ClinGen
TOPMed
CA8457910
rs782228906
488 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs782782701
CA8457908
488 A>T No ClinGen
ExAC
gnomAD
CA8457909
rs782228906
488 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1555585819
CA398333292
490 W>G No ClinGen
gnomAD
CA398333399
rs1597820115
495 D>A No ClinGen
Ensembl
TCGA novel 496 P>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA8457912
rs553007455
497 R>C No ClinGen
1000Genomes
ExAC
gnomAD
rs1002226271
CA289104178
498 F>S No ClinGen
Ensembl
rs1171845687
CA398333437
499 R>C No ClinGen
TOPMed
rs1555585828
CA398333446
500 Q>R No ClinGen
gnomAD
CA8457915
rs782207189
501 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA8457914
rs782575737
501 Y>F No ClinGen
ExAC
gnomAD
CA398333469
rs782421919
502 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA8457916
rs782421919
502 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA398333498
rs1239250316
503 Y>* No ClinGen
TOPMed
gnomAD
rs1567808174
CA625381453
503 Y>* No ClinGen
Ensembl
rs1555585833
CA398333495
503 Y>C No ClinGen
gnomAD
rs545884324
CA8457917
503 Y>H No ClinGen
1000Genomes
ExAC
rs782252720
CA8457918
505 L>P No ClinGen
ExAC
gnomAD
CA398333527
rs1202773157
506 V>F No ClinGen
TOPMed
gnomAD
CA398333523
rs1202773157
506 V>I No ClinGen
TOPMed
gnomAD
rs1202773157
CA398333525
506 V>L No ClinGen
TOPMed
gnomAD
CA398333554
rs746874324
507 S>I No ClinGen
gnomAD
CA289104194
rs746874324
507 S>N No ClinGen
gnomAD
CA398333551
rs746874324
507 S>T No ClinGen
gnomAD
rs781957379
CA8457921
509 G>R No ClinGen
ExAC
gnomAD
CA8457920
rs781957379
509 G>S No ClinGen
ExAC
gnomAD
rs1307126718
CA398333598
509 G>V No ClinGen
TOPMed
CA398333664
rs782714304
512 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8457922
rs782714304
512 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA8457923
rs782017916
512 R>H No ClinGen
ExAC
gnomAD
rs1555585847
CA398333704
514 L>R No ClinGen
gnomAD
rs564566352
CA398333729
515 L>Q No ClinGen
1000Genomes
rs564566352
CA8457924
515 L>R No ClinGen
1000Genomes
rs371603376
CA289104225
517 R>H No ClinGen
ESP
TOPMed
gnomAD
rs1014673627
CA289104227
518 V>A No ClinGen
Ensembl
rs782106973
CA289104226
518 V>L No ClinGen
Ensembl
CA289104231
rs961862651
520 E>V No ClinGen
Ensembl
TCGA novel 525 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1555585865
CA398333954
526 D>A No ClinGen
gnomAD
rs782773588
CA8457928
527 C>G No ClinGen
ExAC
gnomAD
CA8457927
rs782773588
527 C>R No ClinGen
ExAC
gnomAD
CA8457929
rs782485432
528 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA398334038
rs1467530936
530 H>N No ClinGen
TOPMed
rs1416108150
CA398334045
530 H>P No ClinGen
TOPMed
CA398334055
rs1164877359
530 H>Q No ClinGen
TOPMed
CA398334072
rs1555585870
531 L>Q No ClinGen
gnomAD
rs1555585871
CA398334081
532 G>R No ClinGen
gnomAD
rs1555585872
CA398334113
534 H>D No ClinGen
gnomAD
rs781799621
CA398334141
535 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs781799621
CA8457931
535 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs868946115
CA398334164
536 A>T No ClinGen
gnomAD
CA398334185
rs868958911
537 R>G No ClinGen
TOPMed
gnomAD
rs868958911
CA398334181
537 R>S No ClinGen
TOPMed
gnomAD
CA398334207
rs1555585876
538 I>L No ClinGen
gnomAD
rs1458964014
CA398334219
538 I>T No ClinGen
TOPMed
gnomAD
CA398334282
rs1567808273
541 A>G No ClinGen
Ensembl
rs1314696437
CA398334313
543 R>I No ClinGen
TOPMed
gnomAD
CA398334306
rs1314696437
543 R>K No ClinGen
TOPMed
gnomAD
rs914716164
CA289106314
545 M>I No ClinGen
Ensembl
rs1555586319
CA398334847
545 M>L No ClinGen
gnomAD
CA398334857
rs1476513870
545 M>T No ClinGen
TOPMed
CA398334899
rs1555586323
547 H>Q No ClinGen
gnomAD
rs1241475032
CA398334927
549 P>L No ClinGen
TOPMed
gnomAD
rs924706333
CA289106321
552 C>G No ClinGen
gnomAD
CA398335007
rs1205471928
554 G>V No ClinGen
TOPMed
CA398335063
rs1555586335
557 P>R No ClinGen
gnomAD
CA398335055
rs1555586333
557 P>S No ClinGen
gnomAD
CA289106326
rs938798379
558 S>R No ClinGen
TOPMed
gnomAD
CA398335096
rs1271687605
560 D>N No ClinGen
TOPMed
gnomAD
CA398335146
rs1214585553
563 D>G No ClinGen
TOPMed
gnomAD
CA398335138
rs1555586339
563 D>N No ClinGen
gnomAD
rs1555586342
CA398335199
566 I>F No ClinGen
gnomAD
rs1555586343
CA398335208
566 I>T No ClinGen
gnomAD
rs1597821662
CA398335253
568 Y>S No ClinGen
Ensembl
CA8457952
rs571724138
569 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8457953
rs781817572
569 R>H No ClinGen
ExAC
gnomAD
CA8457954
rs539229444
570 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1555586346
CA398335271
570 R>W No ClinGen
gnomAD
rs150052156
CA398335292
571 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8457956
rs781797528
572 S>P No ClinGen
ExAC
gnomAD
CA398335311
rs1555586353
573 G>R No ClinGen
gnomAD
rs1555586354
CA398335334
575 Q>R No ClinGen
gnomAD
rs1555586356
CA398335355
577 A>T No ClinGen
gnomAD
rs1555586358
CA398335370
577 A>V No ClinGen
gnomAD
rs1339337421
CA398335378
578 S>G No ClinGen
TOPMed
gnomAD
CA398335384
rs1044973636
578 S>N No ClinGen
TOPMed
gnomAD
CA289106363
rs1044973636
578 S>T No ClinGen
TOPMed
gnomAD
CA289106433
rs111581438
580 L>Q No ClinGen
gnomAD
CA8457976
rs782648839
585 Q>* No ClinGen
ExAC
gnomAD
rs1425539248
CA398335641
587 H>L No ClinGen
TOPMed
rs1425539248
CA398335640
587 H>R No ClinGen
TOPMed
CA8457977
rs781829395
588 G>D No ClinGen
ExAC
gnomAD
CA8457978
rs782491086
590 S>I No ClinGen
ExAC
gnomAD
CA8457980
rs782196205
593 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs782407924
CA8457981
594 D>E No ClinGen
ExAC
CA398335829
rs1567809132
595 V>A No ClinGen
Ensembl
CA398335826
rs1567809132
595 V>E No ClinGen
Ensembl
rs1555586405
CA398335809
595 V>M No ClinGen
gnomAD
CA398335836
rs1555586409
596 E>Q No ClinGen
gnomAD
rs977609076
CA398335917
601 G>C No ClinGen
TOPMed
rs977609076
CA289106480
601 G>S No ClinGen
TOPMed
CA8457983
rs35201495
CA398335938
602 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs782398426
CA8457985
604 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8457986
rs782398426
604 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8457987
rs782047820
605 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1490414328
CA398336046
608 I>L No ClinGen
TOPMed
rs1555586416
CA398336100
611 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs782008489
CA8457989
612 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA8457988
rs782321764
612 M>V No ClinGen
ExAC
gnomAD
CA398336133
rs1555586419
613 G>D No ClinGen
gnomAD
CA8457990
rs782159743
615 R>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 615 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA8457991
rs782753946
615 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs782753946
CA398336164
615 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA398336166
rs1225970496
616 N>D No ClinGen
TOPMed
TCGA novel 619 L>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs782001345
CA398336235
620 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs782001345
CA8457992
620 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA8457993
rs782083292
621 L>P No ClinGen
ExAC
CA8457995
rs141324431
624 G>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8457996
rs782456355
624 G>E No ClinGen
ExAC
gnomAD
CA398336314
rs1555586428
625 A>S No ClinGen
gnomAD
CA8457997
rs368394015
626 L>P No ClinGen
ESP
ExAC
gnomAD
rs1555586431
CA398336373
629 C>R No ClinGen
gnomAD
CA8457998
rs781906310
630 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs948740126
CA289106514
635 C>R No ClinGen
TOPMed
gnomAD
CA398336496
rs1555586432
635 C>Y No ClinGen
gnomAD
rs1451417529
CA398336542
637 D>Y No ClinGen
TOPMed
CA398336571
rs1555586435
638 W>* No ClinGen
TOPMed
CA8458000
rs782648225
639 V>G No ClinGen
ExAC
gnomAD
rs1037697118
CA289106518
639 V>M No ClinGen
Ensembl
rs782225790
CA8458001
640 H>Y No ClinGen
ExAC
gnomAD
CA398336629
rs1344370780
641 K>N No ClinGen
TOPMed
gnomAD
rs1224037543
CA398338141
643 I>T No ClinGen
TOPMed
CA289110934
rs781916448
644 V>M No ClinGen
Ensembl
CA8458020
rs782676389
646 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA398338181
rs1555587719
647 L>S No ClinGen
gnomAD
CA398338191
rs1555587723
648 S>N No ClinGen
gnomAD
rs1273506942
CA398338206
649 C>* No ClinGen
TOPMed
gnomAD
rs1273506942
CA398338205
649 C>W No ClinGen
TOPMed
gnomAD
CA289110943
rs782196355
650 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA8458021
rs557710063
650 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1555587730
CA398338224
651 K>R No ClinGen
gnomAD
rs782525385
CA8458022
653 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA8458025
rs782308805
654 V>E No ClinGen
ExAC
gnomAD
rs782225125
CA398338275
654 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA8458024
rs782225125
654 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs776939252
CA8458026
655 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1555587744
CA398338339
657 I>T No ClinGen
gnomAD
rs558864070
CA289110956
657 I>V No ClinGen
gnomAD
rs1555587747
CA398338369
659 G>S No ClinGen
gnomAD
rs782282998
CA398338424
660 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA398338438
rs1555587753
661 E>G No ClinGen
gnomAD
rs782423138
CA398338428
661 E>K No ClinGen
ExAC
gnomAD
rs782423138
CA8458028
661 E>Q No ClinGen
ExAC
gnomAD
rs1175888767
CA398338487
663 P>R No ClinGen
TOPMed
CA8458030
rs543954200
664 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8458033
rs781912512
667 V>D No ClinGen
ExAC
TOPMed
gnomAD
rs781912512
CA8458032
667 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs782348595
CA8458031
667 V>I No ClinGen
ExAC
gnomAD
rs781898499
CA8458035
668 L>P No ClinGen
ExAC
gnomAD
CA289110972
rs908381158
670 E>D No ClinGen
Ensembl
CA398338581
rs1555587796
670 E>K No ClinGen
gnomAD
CA398338640
rs1555587800
672 M>I No ClinGen
gnomAD
rs782478303
CA8458039
675 V>A No ClinGen
ExAC
gnomAD
CA8458038
rs781822674
675 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA8458042
rs781794589
680 G>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 682 K>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
CA398339032
rs1597826462
684 S>A No ClinGen
Ensembl
CA8458072
rs782256561
684 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs782341481
CA8458074
685 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1460394367
CA398339062
686 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA8458075
rs564769984
687 Y>H No ClinGen
1000Genomes
ExAC
gnomAD
CA8458076
rs782331635
693 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA398339453
rs1555587908
695 I>V No ClinGen
gnomAD
rs782022324
CA8458078
696 I>F No ClinGen
ExAC
gnomAD
rs782022324
CA398339480
696 I>V No ClinGen
ExAC
gnomAD
CA8458080
rs372946020
697 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8458081
rs544071937
697 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1162552426
CA398339550
698 F>L No ClinGen
TOPMed
CA398339592
rs1555587925
700 Q>E No ClinGen
gnomAD
CA398339614
rs1555587927
700 Q>P No ClinGen
gnomAD
rs782530413
CA8458084
701 G>S No ClinGen
ExAC
gnomAD
CA8458086
rs781850558
702 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs782507505
CA8458087
702 R>H No ClinGen
ExAC
gnomAD
rs782222454
CA8458089
704 S>A No ClinGen
ExAC
gnomAD
TCGA novel 704 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
CA8458091
rs782584686
705 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs782438923
CA8458090
705 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA398339726
rs1567812372
706 D>H No ClinGen
Ensembl
rs1027658221
CA289111151
706 D>V No ClinGen
Ensembl
rs1555587945
CA398339909
713 T>A No ClinGen
gnomAD
rs1207011384
CA398339957
714 S>R No ClinGen
TOPMed
CA398339924
rs1555587947
714 S>R No ClinGen
gnomAD
CA398339989
rs1291233051
716 E>K No ClinGen
TOPMed
CA398340022
rs1246989287
717 G>C No ClinGen
TOPMed
CA8458096
rs368545564
718 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398340039
rs1304934966
719 A>T No ClinGen
TOPMed
rs782058846
CA8458098
720 P>S No ClinGen
ExAC
rs965225607
CA289111160
721 M>L No ClinGen
Ensembl
rs1372480719
CA398340115
722 G>C No ClinGen
TOPMed
rs1298702390
CA398340124
722 G>V No ClinGen
TOPMed
gnomAD
CA289111172
rs61456782
723 P>S No ClinGen
Ensembl
rs567632194
CA398340159
724 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs567632194
CA8458099
724 T>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD

No associated diseases with Q6SZW1

No regional properties for Q6SZW1

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q6SZW1

Functions

Description
EC Number 3.2.2.6 Hydrolyzing N-glycosyl compounds
Subcellular Localization
  • Cytoplasm
  • Cell projection, axon
  • Cell projection, dendrite
  • Synapse
  • Mitochondrion
  • Associated with microtubules
PANTHER Family PTHR22998 SARM1
PANTHER Subfamily PTHR22998:SF1 NAD(+) HYDROLASE SARM1
PANTHER Protein Class scaffold/adaptor protein
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
axon The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
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.
dendrite A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
microtubule Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.
mitochondrial outer membrane The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope.
mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
synapse The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

5 GO annotations of molecular function

Name Definition
identical protein binding Binding to an identical protein or proteins.
NAD(P)+ nucleosidase activity Catalysis of the reaction
NAD+ nucleosidase activity Catalysis of the reaction
NAD+ nucleotidase, cyclic ADP-ribose generating Catalysis of the reaction
signaling adaptor activity The binding activity of a molecule that brings together two or more molecules in a signaling pathway, permitting those molecules to function in a coordinated way. Adaptor molecules themselves do not have catalytic activity.

12 GO annotations of biological process

Name Definition
cell differentiation The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
NAD catabolic process The chemical reactions and pathways resulting in the breakdown of nicotinamide adenine dinucleotide, a coenzyme present in most living cells and derived from the B vitamin nicotinic acid; catabolism may be of either the oxidized form, NAD, or the reduced form, NADH.
negative regulation of MyD88-independent toll-like receptor signaling pathway Any process that stops, prevents, or reduces the frequency, rate, or extent of MyD88-independent toll-like receptor signaling pathway.
nervous system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
protein localization to mitochondrion A process in which a protein is transported to, or maintained in, a location within the mitochondrion.
regulation of dendrite morphogenesis Any process that modulates the frequency, rate or extent of dendrite morphogenesis.
regulation of neuron apoptotic process Any process that modulates the occurrence or rate of cell death by apoptotic process in neurons.
regulation of neuron death Any process that modulates the frequency, rate or extent of neuron death.
response to axon injury Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an axon injury stimulus.
response to glucose Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q6IDD9 Sarm NAD Drosophila melanogaster (Fruit fly) SS
Q6PDS3 Sarm1 NAD Mus musculus (Mouse) SS
I3L5V6 SARM1 NAD Sus scrofa (Pig) SS
D3ZUM2 Sarm1 NAD Rattus norvegicus (Rat) SS
F1QWA8 sarm1 NAD Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MVLTLLLSAY KLCRFFAMSG PRPGAERLAV PGPDGGGGTG PWWAAGGRGP REVSPGAGTE
70 80 90 100 110 120
VQDALERALP ELQQALSALK QAGGARAVGA GLAEVFQLVE EAWLLPAVGR EVAQGLCDAI
130 140 150 160 170 180
RLDGGLDLLL RLLQAPELET RVQAARLLEQ ILVAENRDRV ARIGLGVILN LAKEREPVEL
190 200 210 220 230 240
ARSVAGILEH MFKHSEETCQ RLVAAGGLDA VLYWCRRTDP ALLRHCALAL GNCALHGGQA
250 260 270 280 290 300
VQRRMVEKRA AEWLFPLAFS KEDELLRLHA CLAVAVLATN KEVEREVERS GTLALVEPLV
310 320 330 340 350 360
ASLDPGRFAR CLVDASDTSQ GRGPDDLQRL VPLLDSNRLE AQCIGAFYLC AEAAIKSLQG
370 380 390 400 410 420
KTKVFSDIGA IQSLKRLVSY STNGTKSALA KRALRLLGEE VPRPILPSVP SWKEAEVQTW
430 440 450 460 470 480
LQQIGFSKYC ESFREQQVDG DLLLRLTEEE LQTDLGMKSG ITRKRFFREL TELKTFANYS
490 500 510 520 530 540
TCDRSNLADW LGSLDPRFRQ YTYGLVSCGL DRSLLHRVSE QQLLEDCGIH LGVHRARILT
550 560 570 580 590 600
AAREMLHSPL PCTGGKPSGD TPDVFISYRR NSGSQLASLL KVHLQLHGFS VFIDVEKLEA
610 620 630 640 650 660
GKFEDKLIQS VMGARNFVLV LSPGALDKCM QDHDCKDWVH KEIVTALSCG KNIVPIIDGF
670 680 690 700 710 720
EWPEPQVLPE DMQAVLTFNG IKWSHEYQEA TIEKIIRFLQ GRSSRDSSAG SDTSLEGAAP
MGPT