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.G579G

c.1737A>G

Surrounding Variants

9 papers

NM_000335.5

p.G579R

c.1735G>C

9 papers

NM_000335.5

p.G579R

c.1735G>A

1 paper

NM_000335.5

p.T580insFs

c.1739_1740insT

1 paper

NM_000335.5

p.P578P

c.1734C>T

1 paper

NM_000335.5

p.S581L

c.1742C>T

1 paper

NM_000335.5

p.S581S

c.1743G>A

1 paper

NM_000335.5

p.A582P

c.1744G>C

1 paper

NM_000335.5

p.A582T

c.1744G>A

1 paper

NM_000335.5

p.S577N

c.1730G>A

4 papers

NM_000335.5

p.A582D

c.1745C>A

1 paper

NM_000335.5

p.Q573_P576del4

c.1717_1727del12

1 paper

NM_000335.5

p.A572_P576del5

c.1714_1727del15