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.P187fs

c.559_560fs

Surrounding Variants

2 papers

NM_001365536.1

p.P187L

c.560C>T

1 paper

NM_001365536.1

p.P187delFs

c.560delG

41 papers

NM_001365536.1

p.R185H

c.554G>A

1 paper

NM_001365536.1

p.R185C

c.553C>T

1 paper

NM_001365536.1

p.N189Y

c.565A>T

1 paper

NM_001365536.1

p.W190R

c.568T>C

1 paper

NM_001365536.1

p.W190R

c.568T>A

2 papers

NM_001365536.1

p.W190*

c.569G>A

2 papers

NM_001365536.1

p.W190*

c.570G>A

1 paper

NM_001365536.1

p.E180*

c.538G>T

4 papers

NM_001365536.1

p.V194I

c.580G>A

1 paper

NM_001365536.1

p.E180K

c.538G>A