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

1–12 of 1028 variants

56 papers

NM_001365536.1

p.I228M

c.684C>G

52 papers

NM_001365536.1

p.S241T

c.721T>A

43 papers

NM_001365536.1

p.I136V

c.406A>G

41 papers

NM_001365536.1

p.R185H

c.554G>A

37 papers

NM_001365536.1

p.M932L

c.2794A>C

36 papers

NM_001365536.1

p.M932L

c.2794A>T

33 papers

NM_001365536.1

p.I234T

c.701T>C

33 papers

NM_001365536.1

p.N395K

c.1185C>G

33 papers

NM_001365536.1

p.N395K

c.1185C>A

32 papers

NM_001365536.1

p.F216S

c.647T>C

31 papers

NM_001365536.1

p.Q10R

c.29A>G

30 papers

NM_001365536.1

p.V400M

c.1198G>A