Varaico: Literature-Extracted Genetic Variants

SCN9A

740 papers

RefSeq Summary

This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associat...

Pfam Domains

Ion_transaa 125–412UCSCIon transport protein

Na_trans_cytoplaa 535–694UCSCCytoplasmic domain of voltage-gated Na+ ion channel

Ion_transaa 743–978UCSCIon transport protein

Na_trans_assocaa 982–1187UCSCSodium ion transport-associated

Ion_transaa 1191–1468UCSCIon transport protein

Ion_transaa 1514–1771UCSCIon transport protein

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 9

HGNC Alias Symbols

Nav1.7; PN1; NE-NA; NENA; ETHA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001365536.1

p.Q369_T370Splc

c.1108-2A>G

Surrounding Variants

1 paper

NM_001365536.1

p.T370fs

c.1108_1109fs

5 papers

NM_001365536.1

p.T370M

c.1109C>T

1 paper

NM_001365536.1

p.L371M

c.1111C>A

3 papers

NM_001365536.1

p.R372H

c.1115G>A

1 paper

NM_001365536.1

p.A373V

c.1118C>T

5 papers

NM_001365536.1

p.A373A

c.1119T>C

4 papers

NM_001365536.1

p.G375fs

c.1123_1124fs

2 papers

NM_001365536.1

p.G375A

c.1124G>C

4 papers

NM_001365536.1

p.G375delFs

c.1124delC

3 papers

NM_001365536.1

p.K376Q

c.1126A>C

2 papers

NM_001365536.1

p.F381S

c.1142T>C

1 paper

NM_001365536.1

p.V384L

c.1150G>T