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.M958V

c.2872A>G

Surrounding Variants

1 paper

NM_001330260.2

p.V956F

c.2866G>T

5 papers

NM_001330260.2

p.V960D

c.2879T>A

1 paper

NM_001330260.2

p.M961R

c.2882T>G

1 paper

NM_001330260.2

p.L954F

c.2860C>T

8 papers

NM_001330260.2

p.G964R

c.2890G>C

1 paper

NM_001330260.2

p.A951T

c.2851G>A

1 paper

NM_001330260.2

p.N965K

c.2895C>A

1 paper

NM_001330260.2

p.N965K

c.2895C>G

1 paper

NM_001330260.2

p.A948fs

c.2842_2843fs

1 paper

NM_001330260.2

p.V967_V968Splc

c.2901+2T>C

1 paper

NM_001330260.2

p.M945V

c.2833A>G

1 paper

NM_001330260.2

p.W942*

c.2826G>A