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.C177delFs

c.530delC

Surrounding Variants

1 paper

NM_001365536.1

p.G179A

c.536G>C

1 paper

NM_001365536.1

p.G179E

c.536G>A

1 paper

NM_001365536.1

p.G175_F176ins2

c.525_526ins6

1 paper

NM_001365536.1

p.E180*

c.538G>T

1 paper

NM_001365536.1

p.E180K

c.538G>A

1 paper

NM_001365536.1

p.R174_G175ins6

c.520_524ins18

1 paper

NM_001365536.1

p.L172R

c.515T>G

1 paper

NM_001365536.1

p.R185C

c.553C>T

41 papers

NM_001365536.1

p.R185H

c.554G>A

1 paper

NM_001365536.1

p.K170_I171insGCA

c.508_512ins9

1 paper

NM_001365536.1

p.P187fs

c.559_560fs

2 papers

NM_001365536.1

p.P187L

c.560C>T