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

2 papers

NM_001330260.2

p.K1807N

c.5421G>T

Surrounding Variants

2 papers

NM_001330260.2

p.K1807N

c.5421G>C

6 papers

NM_001330260.2

p.Q1801E

c.5401C>G

1 paper

NM_001330260.2

p.D1798N

c.5392G>A

3 papers

NM_001330260.2

p.R1820*

c.5458C>T

1 paper

NM_001330260.2

p.W1792*

c.5376G>A

1 paper

NM_001330260.2

p.W1792*

c.5375G>A

1 paper

NM_001330260.2

p.I1791T

c.5372T>C

1 paper

NM_001177984.3

p.I1750del1

c.5248_5249delATC

2 papers

NM_001330260.2

p.I1827V

c.5479A>G

2 papers

NM_001330260.2

p.T1787P

c.5359A>C

1 paper

NM_001330260.2

p.L1829F

c.5485C>T

1 paper

NM_001330260.2

p.A1831delFs

c.5493delT