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.I62T

c.185T>C

Surrounding Variants

8 papers

NM_001365536.1

p.I62V

c.184A>G

1 paper

NM_001365536.1

p.Y63F

c.188A>T

1 paper

NM_001365536.1

p.Y63C

c.188A>G

1 paper

NM_001365536.1

p.G64R

c.190G>A

1 paper

NM_001365536.1

p.G64V

c.191G>T

1 paper

NM_001365536.1

p.Q58_L59ins2

c.174_175ins6

4 papers

NM_001365536.1

p.Q58Q

c.174G>A

1 paper

NM_001365536.1

p.K57ins1

c.170_171insGCA

1 paper

NM_001365536.1

p.G56A

c.167G>C

1 paper

NM_001365536.1

p.S51_E54del0

c.151_162del12

1 paper

NM_001365536.1

p.S72_E73insT

c.214_218ins3

1 paper

NM_001365536.1

p.S72*

c.215C>G