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

3 papers

NM_001330260.2

p.L1320F

c.3960G>T

Surrounding Variants

3 papers

NM_001330260.2

p.L1320F

c.3960G>C

2 papers

NM_001330260.2

p.A1319D

c.3956C>A

2 papers

NM_001330260.2

p.A1319T

c.3955G>A

6 papers

NM_001330260.2

p.A1319S

c.3955G>T

5 papers

NM_001330260.2

p.N1318S

c.3953A>G

12 papers

NM_001330260.2

p.A1323T

c.3967G>A

3 papers

NM_001330260.2

p.A1323P

c.3967G>C

2 papers

NM_001330260.2

p.A1323S

c.3967G>T

2 papers

NM_001330260.2

p.A1323V

c.3968C>T

1 paper

NM_001330260.2

p.P1325S

c.3973C>T

2 papers

NM_001330260.2

p.V1316A

c.3947T>C

1 paper

NM_001330260.2

p.V1316M

c.3946G>A