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

11 papers

NM_000335.5

p.R282C

c.844C>T

Surrounding Variants

3 papers

NM_000335.5

p.R282G

c.844C>G

70 papers

NM_000335.5

p.R282H

c.845G>A

3 papers

NM_000335.5

p.V281A

c.842T>C

2 papers

NM_000335.5

p.V281L

c.841G>T

2 papers

NM_000335.5

p.V281L

c.841G>C

3 papers

NM_000335.5

p.V281M

c.841G>A

1 paper

NM_000335.5

p.C280W

c.840C>G

1 paper

NM_000335.5

p.C280delFs

c.839delC

2 papers

NM_000335.5

p.C280S

c.839G>C

1 paper

NM_000335.5

p.C280Y

c.839G>A

1 paper

NM_000335.5

p.N283_F284insFs

c.849_850insTG

2 papers

NM_000335.5

p.C280S

c.838T>A