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

4 papers

NM_001330260.2

p.T1852I

c.5555C>T

Surrounding Variants

1 paper

NM_001330260.2

p.D1846E

c.5538C>A

1 paper

NM_001330260.2

p.D1846E

c.5538C>G

1 paper

NM_001330260.2

p.D1846A

c.5537A>C

1 paper

NM_001330260.2

p.G1860_Q1867ins2

c.5579_5599dup21

1 paper

NM_001330260.2

p.H1843R

c.5528A>G

1 paper

NM_001330260.2

p.L1862V

c.5584T>G

1 paper

NM_001330260.2

p.L1862S

c.5585T>C

4 papers

NM_001330260.2

p.L1865P

c.5594T>C

1 paper

NM_001330260.2

p.R1866W

c.5596C>T

4 papers

NM_001330260.2

p.R1866Q

c.5597G>A

2 papers

NM_001330260.2

p.M1869T

c.5606T>C

1 paper

NM_001330260.2

p.P1835A

c.5503C>G