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.G1914A

c.5741G>C

Surrounding Variants

2 papers

NM_001330260.2

p.G1914S

c.5740G>A

2 papers

NM_001330260.2

p.R1913W

c.5737C>T

NM_001177984.3

p.R1872W

c.5614C>T

1 paper

NM_001330260.2

p.K1918fs

c.5752_5753fs

1 paper

NM_001177984.3

p.K1877R

c.5630A>G

1 paper

NM_001330260.2

p.G1908R

c.5722G>A

1 paper

NM_001330260.2

p.R1907Q

c.5720G>A

5 papers

NM_001330260.2

p.R1904C

c.5710C>T

1 paper

NM_001330260.2

p.V1900insFs

c.5699_5700ins11

1 paper

NM_001330260.2

p.G1929S

c.5785G>A

1 paper

NM_001330260.2

p.V1897insFs

c.5690dupT

1 paper

NM_001330260.2

p.R1932Q

c.5795G>A

1 paper

NM_001177984.3

p.Q1853H

c.5559G>C