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

106 papers

NM_001330260.2

p.N1768D

c.5302A>G

Surrounding Variants

1 paper

NM_001330260.2

p.N1768S

c.5303A>G

1 paper

NM_001330260.2

p.N1768K

c.5304C>A

1 paper

NM_001330260.2

p.N1768K

c.5304C>G

2 papers

NM_001330260.2

p.V1771I

c.5311G>A

1 paper

NM_001330260.2

p.I1764_I1765insFs

c.5292_5293insT

2 papers

NM_001330260.2

p.I1764M

c.5292C>G

1 paper

NM_001330260.2

p.A1772T

c.5314G>A

2 papers

NM_001330260.2

p.A1763G

c.5288C>G

1 paper

NM_001330260.2

p.Y1761H

c.5281T>C

8 papers

NM_001330260.2

p.M1760I

c.5280G>A

8 papers

NM_001330260.2

p.M1760I

c.5280G>C

8 papers

NM_001330260.2

p.M1760I

c.5280G>T