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.S241A

c.721T>G

Surrounding Variants

52 papers

NM_001365536.1

p.S241T

c.721T>A

2 papers

NM_001365536.1

p.S241L

c.722C>T

1 paper

NM_001365536.1

p.L238S

c.713T>C

8 papers

NM_001365536.1

p.L245V

c.733C>G

1 paper

NM_001365536.1

p.G236W

c.706G>T

1 paper

NM_001365536.1

p.S246fs

c.736_737fs

1 paper

NM_001365536.1

p.D247V

c.740A>T

33 papers

NM_001365536.1

p.I234T

c.701T>C

1 paper

NM_001365536.1

p.V248A

c.743T>C

1 paper

NM_001365536.1

p.L231P

c.692T>C

1 paper

NM_001365536.1

p.G230insFs

c.689_690insC

2 papers

NM_001365536.1

p.V253E

c.758T>A