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

43 papers

NM_001365536.1

p.I136V

c.406A>G

Surrounding Variants

1 paper

NM_001365536.1

p.T135_I136insC

c.403_407ins3

1 paper

NM_001365536.1

p.C140R

c.418T>C

1 paper

NM_001365536.1

p.C140Y

c.419G>A

2 papers

NM_001365536.1

p.I141V

c.421A>G

1 paper

NM_001365536.1

p.M130I

c.390G>T

1 paper

NM_001365536.1

p.M130I

c.390G>C

1 paper

NM_001365536.1

p.M130I

c.390G>A

1 paper

NM_001365536.1

p.M130K

c.389T>A

1 paper

NM_001365536.1

p.S129_I141del13

c.385_422del39

3 papers

NM_001365536.1

p.M145L

c.433A>T

3 papers

NM_001365536.1

p.M145L

c.433A>C

3 papers

NM_001365536.1

p.M145T

c.434T>C