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

5 papers

NM_001365536.1

p.R429R

c.1287T>A

Surrounding Variants

1 paper

NM_001365536.1

p.R429L

c.1286G>T

1 paper

NM_001365536.1

p.L430F

c.1288C>T

6 papers

NM_001365536.1

p.R429C

c.1285C>T

1 paper

NM_001365536.1

p.M426K

c.1277T>A

1 paper

NM_001365536.1

p.E433_Q434delFs

c.1299_1300delGC

3 papers

NM_001365536.1

p.E435V

c.1304A>T

1 paper

NM_001365536.1

p.E435A

c.1304A>C

2 papers

NM_001365536.1

p.E436K

c.1306G>A

4 papers

NM_001365536.1

p.E422E

c.1266A>G

2 papers

NM_001365536.1

p.E422*

c.1264G>T

1 paper

NM_001365536.1

p.E422K

c.1264G>A

1 paper

NM_001365536.1

p.L421S

c.1262T>C