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

1 paper

NM_001330260.2

p.N1759del1

c.5275_5276delAAC

Surrounding Variants

8 papers

NM_001330260.2

p.V1758A

c.5273T>C

2 papers

NM_001330260.2

p.N1759T

c.5276A>C

6 papers

NM_001330260.2

p.N1759S

c.5276A>G

1 paper

NM_001330260.2

p.M1760V

c.5278A>G

1 paper

NM_001330260.2

p.V1757D

c.5270T>A

3 papers

NM_001330260.2

p.V1757I

c.5269G>A

8 papers

NM_001330260.2

p.M1760I

c.5280G>A

8 papers

NM_001330260.2

p.M1760I

c.5280G>C

8 papers

NM_001330260.2

p.M1760I

c.5280G>T

1 paper

NM_001330260.2

p.Y1761H

c.5281T>C

1 paper

NM_001330260.2

p.I1756S

c.5267T>G

2 papers

NM_001330260.2

p.L1755I

c.5263C>A