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.A1831delFs

c.5493delT

Surrounding Variants

3 papers

NM_001330260.2

p.D1833H

c.5497G>C

1 paper

NM_001330260.2

p.D1833_L1834ins9

c.5497_5501ins27

1 paper

NM_001330260.2

p.D1833G

c.5498A>G

1 paper

NM_001330260.2

p.L1829F

c.5485C>T

1 paper

NM_001330260.2

p.D1833E

c.5499T>A

1 paper

NM_001330260.2

p.D1833E

c.5499T>G

1 paper

NM_001330260.2

p.P1835A

c.5503C>G

2 papers

NM_001330260.2

p.I1827V

c.5479A>G

3 papers

NM_001330260.2

p.R1820*

c.5458C>T

1 paper

NM_001330260.2

p.H1843R

c.5528A>G

1 paper

NM_001330260.2

p.D1846A

c.5537A>C

1 paper

NM_001330260.2

p.D1846E

c.5538C>A