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_001177984.3

p.I1583T

c.4748T>C

NM_001330260.2

p.I1624T

c.4871T>C

Surrounding Variants

1 paper

NM_001330260.2

p.I1624S

c.4871T>G

1 paper

NM_001330260.2

p.G1625_I1627ins1

c.4873_4881dup9

5 papers

NM_001330260.2

p.G1625R

c.4873G>A

5 papers

NM_001330260.2

p.G1625R

c.4873G>C

1 paper

NM_001330260.2

p.R1623H

c.4868G>A

11 papers

NM_001330260.2

p.A1622D

c.4865C>A

1 paper

NM_001330260.2

p.R1626H

c.4877G>A

1 paper

NM_001330260.2

p.R1626L

c.4877G>T

1 paper

NM_001330260.2

p.I1627N

c.4880T>A

1 paper

NM_001330260.2

p.I1627T

c.4880T>C

4 papers

NM_001330260.2

p.L1621W

c.4862T>G

18 papers

NM_001330260.2

p.R1620L

c.4859G>T