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.A606A

c.1818A>T

Surrounding Variants

1 paper

NM_000335.5

p.A606A

c.1818A>G

1 paper

NM_000335.5

p.G607R

c.1819G>C

1 paper

NM_000335.5

p.G607S

c.1819G>A

4 papers

NM_000335.5

p.G607V

c.1820G>T

1 paper

NM_000335.5

p.A606S

c.1816G>T

1 paper

NM_000335.5

p.A606insFs

c.1816_1817insT

3 papers

NM_000335.5

p.G607D

c.1820G>A

1 paper

NM_000335.5

p.G607G

c.1821C>T

1 paper

NM_000335.5

p.L604V

c.1810C>G

1 paper

NM_000335.5

p.P609P

c.1827A>T

2 papers

NM_000335.5

p.E610K

c.1828G>A

2 papers

NM_000335.5

p.A611S

c.1831G>T