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_002977.4

p.K879fs

c.2635_2636fs

Surrounding Variants

1 paper

NM_002977.4

p.G878A

c.2633G>C

1 paper

NM_001365536.1

p.F888L

c.2664T>G

1 paper

NM_001365536.1

p.F888L

c.2664T>A

1 paper

NM_001365536.1

p.F888L

c.2662T>C

1 paper

NM_001365536.1

p.K893N

c.2679A>C

1 paper

NM_001365536.1

p.E894K

c.2680G>A

5 papers

NM_001365536.1

p.Q886E

c.2656C>G

NM_002977.4

p.Q875E

c.2623C>G

1 paper

NM_001365536.1

p.M885K

c.2654T>A

1 paper

NM_001365536.1

p.G884S

c.2650G>A

7 papers

NM_002977.4

p.V872G

c.2615T>G

NM_001365536.1

p.V883G

c.2648T>G

4 papers

NM_001365536.1

p.C897Y

c.2690G>A

1 paper

NM_001365536.1

p.C897del1

c.2689_2691delGCA