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_002977.4

p.R896Q

c.2687G>A

Surrounding Variants

1 paper

NM_002977.4

p.R896W

c.2686C>T

4 papers

NM_002977.4

p.W897*

c.2690G>A

3 papers

NM_002977.4

p.W897*

c.2691G>A

2 papers

NM_002977.4

p.M899I

c.2697G>T

2 papers

NM_002977.4

p.M899I

c.2697G>C

2 papers

NM_002977.4

p.M899I

c.2697G>A

1 paper

NM_001365536.1

p.D902V

c.2705A>T

1 paper

NM_002977.4

p.D890E

c.2670T>G

1 paper

NM_002977.4

p.D890E

c.2670T>A

1 paper

NM_002977.4

p.D890V

c.2669A>T

1 paper

NM_001365536.1

p.C897del1

c.2689_2691delGCA

2 papers

NM_001365536.1

p.F917V

c.2749T>G