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.F1746del1

c.5236_5237delTTT

Surrounding Variants

1 paper

NM_001330260.2

p.F1745L

c.5235C>A

1 paper

NM_001330260.2

p.F1745L

c.5235C>G

1 paper

NM_001330260.2

p.F1745L

c.5233T>C

1 paper

NM_001330260.2

p.F1745_F1746del1

c.5235_5237delCTT

2 papers

NM_001330260.2

p.Y1749C

c.5246A>G

4 papers

NM_001330260.2

p.I1750del1

c.5248_5249delATC

2 papers

NM_001330260.2

p.S1753A

c.5257T>G

2 papers

NM_001330260.2

p.F1754S

c.5261T>C

2 papers

NM_001330260.2

p.L1755I

c.5263C>A

1 paper

NM_001330260.2

p.I1756S

c.5267T>G

3 papers

NM_001330260.2

p.V1757I

c.5269G>A

1 paper

NM_001330260.2

p.V1757D

c.5270T>A