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.P1719delFs

c.5156_5157delCT

Surrounding Variants

1 paper

NM_001330260.2

p.P1719fs

c.5155_5156fs

3 papers

NM_001330260.2

p.P1719fs

c.5155_5156fs

4 papers

NM_001330260.2

p.P1719R

c.5156C>G

1 paper

NM_001330260.2

p.A1705T

c.5113G>A

1 paper

NM_001330260.2

p.T1703N

c.5108C>A

1 paper

NM_001330260.2

p.Q1700E

c.5098C>G

1 paper

NM_001330260.2

p.M1695I

c.5085G>A

1 paper

NM_001330260.2

p.M1695I

c.5085G>C

1 paper

NM_001330260.2

p.M1695I

c.5085G>T

1 paper

NM_001330260.2

p.F1745_F1746del1

c.5235_5237delCTT

1 paper

NM_001330260.2

p.F1745L

c.5233T>C

1 paper

NM_001330260.2

p.F1745L

c.5235C>A