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

6 papers

NM_001365536.1

p.E406K

c.1216G>A

Surrounding Variants

1 paper

NM_001365536.1

p.E406fs

c.1216_1217fs

1 paper

NM_001365536.1

p.Y405F

c.1214A>T

1 paper

NM_001365536.1

p.E406_E407delFs

c.1218_1221del4

2 papers

NM_001365536.1

p.M403T

c.1208T>C

1 paper

NM_001365536.1

p.N409S

c.1226A>G

30 papers

NM_001365536.1

p.V400M

c.1198G>A

1 paper

NM_001365536.1

p.E414G

c.1241A>G

2 papers

NM_001365536.1

p.L396W

c.1187T>G

33 papers

NM_001365536.1

p.N395K

c.1185C>G

33 papers

NM_001365536.1

p.N395K

c.1185C>A

1 paper

NM_001365536.1

p.Q418R

c.1253A>G

1 paper

NM_001365536.1

p.L393L

c.1177C>T