Q6SZW1
Gene name |
SARM1 (KIAA0524, SAMD2, SARM) |
Protein name |
NAD hydrolase SARM1 hydrolase SARM1) |
Names |
+, NADase SARM1, hSARM1, NADP(+, Sterile alpha and Armadillo repeat protein, Sterile alpha and TIR motif-containing protein 1, Sterile alpha motif domain-containing protein 2, MyD88-5, SAM domain-containing protein 2, Tir-1 homolog, HsTIR |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23098 |
EC number |
3.2.2.6: Hydrolyzing N-glycosyl compounds |
Protein Class |
SARM1 (PTHR22998) |

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
References
- Bratkowski M et al. (2020) "Structural and Mechanistic Regulation of the Pro-degenerative NAD Hydrolase SARM1", Cell reports, 32, 107999
- Summers DW et al. (2016) "SARM1-specific motifs in the TIR domain enable NAD+ loss and regulate injury-induced SARM1 activation", Proceedings of the National Academy of Sciences of the United States of America, 113, E6271-E6280
- Sasaki Y et al. (2021) "Nicotinic acid mononucleotide is an allosteric SARM1 inhibitor promoting axonal protection", Experimental neurology, 345, 113842
- Bloom AJ et al. (2022) "Constitutively active SARM1 variants that induce neuropathy are enriched in ALS patients", Molecular neurodegeneration, 17, 1
- Shen C et al. (2021) "Multiple domain interfaces mediate SARM1 autoinhibition", Proceedings of the National Academy of Sciences of the United States of America, 118,
- Khazma T et al. (2022) "A duplex structure of SARM1 octamers stabilized by a new inhibitor", Cellular and molecular life sciences : CMLS, 80, 16
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 |
|
|
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
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 |