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.V947F

c.2839G>T

Surrounding Variants

9 papers

NM_002977.4

p.M932L

c.2794A>T

1 paper

NM_001365536.1

p.M943V

c.2827A>G

10 papers

NM_002977.4

p.M932L

c.2794A>C

2 papers

NM_001365536.1

p.V953F

c.2857G>T

1 paper

NM_001365536.1

p.G955del1

c.2863_2865delTCC

1 paper

NM_001365536.1

p.I954_G955del2

c.2860_2864del6

1 paper

NM_001365536.1

p.M936V

c.2806A>G

1 paper

NM_001365536.1

p.V958delFs

c.2872delC

1 paper

NM_002977.4

p.V947_V948Splc

c.2841+5G>A

36 papers

NM_001365536.1

p.M932L

c.2794A>T

37 papers

NM_001365536.1

p.M932L

c.2794A>C

1 paper

NM_002977.4

p.T920N

c.2759C>A