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

3 papers

NM_001330260.2

p.R223S

c.669G>T

Surrounding Variants

3 papers

NM_001330260.2

p.R223S

c.669G>C

1 paper

NM_001330260.2

p.R223T

c.668G>C

22 papers

NM_001330260.2

p.R223G

c.667A>G

1 paper

NM_001330260.2

p.V224G

c.671T>G

1 paper

NM_001330260.2

p.T221T

c.663A>G

1 paper

NM_001330260.2

p.T221insFs

c.662_663insT

1 paper

NM_001330260.2

p.R226*

c.676C>T

2 papers

NM_001330260.2

p.R226Q

c.677G>A

1 paper

NM_001330260.2

p.R220K

c.659G>A

1 paper

NM_001330260.2

p.R220G

c.658A>G

1 paper

NM_001330260.2

p.L219P

c.656T>C

1 paper

NM_001330260.2

p.L228L

c.682T>C