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.M3_L4delFs

c.7_10del4

Surrounding Variants

1 paper

NM_001365536.1

p.L4M

c.10T>A

1 paper

NM_001365536.1

p.L4F

c.12G>T

2 papers

NM_001365536.1

p.L4F

c.12G>C

1 paper

NM_001365536.1

p.M3I

c.9G>A

1 paper

NM_001365536.1

p.P5insFs

c.13_14insA

1 paper

NM_001365536.1

p.P5L

c.14C>T

1 paper

NM_001365536.1

p.A2V

c.5C>T

1 paper

NM_001365536.1

p.A2delins

c.5delinsG

2 papers

NM_001365536.1

p.M1insFs

c.3dupG

2 papers

NM_001365536.1

p.A2T

c.4G>A

1 paper

NM_001365536.1

p.M1del1

c.1_2delCAT

1 paper

NM_001365536.1

p.M1_A2insFs

c.3_4insA