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.P7_Q10del4

c.19_29del12

Surrounding Variants

1 paper

NM_001365536.1

p.Q10H

c.30G>T

1 paper

NM_001365536.1

p.S11N

c.32G>A

31 papers

NM_001365536.1

p.Q10R

c.29A>G

1 paper

NM_001365536.1

p.Q10P

c.29A>C

7 papers

NM_001365536.1

p.Q10K

c.28C>A

1 paper

NM_001365536.1

p.P9R

c.26C>G

1 paper

NM_001365536.1

p.V13L

c.37G>C

1 paper

NM_001365536.1

p.P9S

c.25C>T

1 paper

NM_001365536.1

p.V13G

c.38T>G

1 paper

NM_001365536.1

p.H14Y

c.40C>T

1 paper

NM_001365536.1

p.H14R

c.41A>G

1 paper

NM_001365536.1

p.P7P

c.21A>G