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.K1880E

c.5638A>G

Surrounding Variants

1 paper

NM_001330260.2

p.P1878S

c.5632C>T

1 paper

NM_001330260.2

p.S1882F

c.5645C>T

44 papers

NM_001330260.2

p.N1877S

c.5630A>G

1 paper

NM_001330260.2

p.Y1883*

c.5649C>A

1 paper

NM_001330260.2

p.Y1883*

c.5649C>G

1 paper

NM_001177984.3

p.E1843G

c.5528A>G

1 paper

NM_001330260.2

p.I1886V

c.5656A>G

1 paper

NM_001330260.2

p.V1874L

c.5620G>C

1 paper

NM_001330260.2

p.F1873F

c.5619C>T

1 paper

NM_001330260.2

p.F1873delFs

c.5619delC

47 papers

NM_001330260.2

p.R1872Q

c.5615G>A

NM_001177984.3

p.R1831Q

c.5492G>A

1 paper

NM_001330260.2

p.R1872P

c.5615G>C