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.E284fs

c.850_851fs

Surrounding Variants

2 papers

NM_001365536.1

p.E284delFs

c.850delC

1 paper

NM_001365536.1

p.E287K

c.859G>A

1 paper

NM_001365536.1

p.S288delFs

c.862_863delCT

14 papers

NM_001365536.1

p.R277*

c.829C>T

1 paper

NM_001365536.1

p.N270_K274delFs

c.809_822del14

1 paper

NM_001365536.1

p.H273Y

c.817C>T

1 paper

NM_001365536.1

p.N270insFs

c.810dupC

1 paper

NM_001365536.1

p.N270S

c.809A>G

1 paper

NM_001365536.1

p.D298N

c.892G>A

1 paper

NM_001365536.1

p.N270fs

c.808_809fs

6 papers

NM_001365536.1

p.N270D

c.808A>G

1 paper

NM_001365536.1

p.F267Y

c.800T>A