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

5 papers

NM_001330260.2

p.S217P

c.649T>C

Surrounding Variants

9 papers

NM_001330260.2

p.V216D

c.647T>A

1 paper

NM_001330260.2

p.V216A

c.647T>C

1 paper

NM_001330260.2

p.V216G

c.647T>G

1 paper

NM_001330260.2

p.N215S

c.644A>G

6 papers

NM_001330260.2

p.N215D

c.643A>G

1 paper

NM_001330260.2

p.L219fs

c.655_656fs

1 paper

NM_001330260.2

p.L219V

c.655C>G

1 paper

NM_001330260.2

p.L219P

c.656T>C

16 papers

NM_001330260.2

p.G214D

c.641G>A

1 paper

NM_001330260.2

p.R220G

c.658A>G

1 paper

NM_001330260.2

p.R220K

c.659G>A

4 papers

NM_001330260.2

p.L213P

c.638T>C