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

1 paper

NM_001365536.1

p.V218I

c.652G>A

Surrounding Variants

1 paper

NM_001365536.1

p.R217delFs

c.650delC

32 papers

NM_001365536.1

p.F216S

c.647T>C

1 paper

NM_001365536.1

p.L219insFs

c.655_656insT

1 paper

NM_001365536.1

p.R220T

c.659G>C

1 paper

NM_001365536.1

p.A221V

c.662C>T

1 paper

NM_001365536.1

p.R214L

c.641G>T

3 papers

NM_001365536.1

p.R214Q

c.641G>A

2 papers

NM_001365536.1

p.R214*

c.640C>T

1 paper

NM_001365536.1

p.L222S

c.665T>C

1 paper

NM_001365536.1

p.A212V

c.635C>T

1 paper

NM_001365536.1

p.A212T

c.634G>A

14 papers

NM_001365536.1

p.S211P

c.631T>C