Varaico: Literature-Extracted Genetic Variants

SCN5A

2,996 papers

RefSeq Summary

The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible f...

Pfam Domains

Ion_transaa 130–423UCSCIon transport protein

Na_trans_cytoplaa 507–667UCSCCytoplasmic domain of voltage-gated Na+ ion channel

Ion_transaa 716–949UCSCIon transport protein

Na_trans_assocaa 953–1200UCSCSodium ion transport-associated

Ion_transaa 1204–1481UCSCIon transport protein

Ion_transaa 1527–1783UCSCIon transport protein

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 5

HGNC Previous Symbol

CMD1E

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000335.5

p.K158N

c.474G>C

Surrounding Variants

1 paper

NM_000335.5

p.K158N

c.474G>T

1 paper

NM_000335.5

p.K158insFs

c.472_473insA

2 papers

NM_000335.5

p.Y159H

c.475T>C

2 papers

NM_000335.5

p.Y159C

c.476A>G

4 papers

NM_000335.5

p.Y159*

c.477T>G

4 papers

NM_000335.5

p.Y159*

c.477T>A

1 paper

NM_000335.5

p.V160A

c.479T>C

1 paper

NM_000335.5

p.W156C

c.468G>T

1 paper

NM_000335.5

p.W156C

c.468G>C

66 papers

NM_000335.5

p.W156*

c.468G>A

1 paper

NM_000335.5

p.V160fs

c.478_479fs

1 paper

NM_000335.5

p.Y159_V160delFs

c.475_478del4