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.W942*

c.2826G>A

Surrounding Variants

1 paper

NM_001330260.2

p.D943delFs

c.2827_2828delGA

1 paper

NM_001330260.2

p.W942*

c.2825G>A

1 paper

NM_001330260.2

p.M945V

c.2833A>G

2 papers

NM_001330260.2

p.W937*

c.2811G>A

2 papers

NM_001330260.2

p.W937C

c.2811G>C

2 papers

NM_001330260.2

p.W937C

c.2811G>T

2 papers

NM_001330260.2

p.W937*

c.2810G>A

1 paper

NM_001330260.2

p.A948fs

c.2842_2843fs

4 papers

NM_001330260.2

p.E936K

c.2806G>A

1 paper

NM_001330260.2

p.G935delins

c.2803_2804delinsTC

1 paper

NM_001330260.2

p.A951T

c.2851G>A

1 paper

NM_001330260.2

p.C934R

c.2800T>C