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

1–12 of 1022 variants

106 papers

NM_001330260.2

p.N1768D

c.5302A>G

76 papers

NM_001330260.2

p.R1872W

c.5614C>T

59 papers

NM_001330260.2

p.R1617Q

c.4850G>A

46 papers

NM_001330260.2

p.R1872Q

c.5615G>A

44 papers

NM_001330260.2

p.N1877S

c.5630A>G

38 papers

NM_001330260.2

p.R850Q

c.2549G>A

37 papers

NM_001330260.2

p.G1475R

c.4423G>A

37 papers

NM_001330260.2

p.G1475R

c.4423G>C

36 papers

NM_001330260.2

p.I1327V

c.3979A>G

32 papers

NM_001330260.2

p.E1483K

c.4447G>A

30 papers

NM_001330260.2

p.T767I

c.2300C>T

22 papers

NM_001330260.2

p.R223G

c.667A>G