Varaico: Literature-Extracted Genetic Variants

SCN8A

770 papers

RefSeq Summary

This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid m...

Pfam Domains

Ion_transaa 131–422UCSCIon transport protein

Na_trans_cytoplaa 546–702UCSCCytoplasmic domain of voltage-gated Na+ ion channel

Ion_transaa 752–988UCSCIon transport protein

Na_trans_assocaa 991–1193UCSCSodium ion transport-associated

Ion_transaa 1197–1475UCSCIon transport protein

Ion_transaa 1521–1777UCSCIon transport protein

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 8

HGNC Alias Symbols

Nav1.6; NaCh6; PN4; CerIII; CIAT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001330260.2

p.M1492V

c.4474A>G

Surrounding Variants

2 papers

NM_001330260.2

p.M1492T

c.4475T>C

8 papers

NM_001330260.2

p.A1491V

c.4472C>T

2 papers

NM_001330260.2

p.K1493E

c.4477A>G

1 paper

NM_001330260.2

p.K1493R

c.4478A>G

1 paper

NM_001330260.2

p.K1494M

c.4481A>T

1 paper

NM_001330260.2

p.K1498E

c.4492A>G

3 papers

NM_001330260.2

p.K1498M

c.4493A>T

1 paper

NM_001330260.2

p.Q1485*

c.4453C>T

1 paper

NM_001330260.2

p.K1499R

c.4496A>G

1 paper

NM_001330260.2

p.P1500L

c.4499C>T

2 papers

NM_001330260.2

p.Q1501K

c.4501C>A

1 paper

NM_001330260.2

p.Q1501*

c.4501C>T