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.D546V

c.1637A>T

Surrounding Variants

2 papers

NM_000335.5

p.D546G

c.1637A>G

1 paper

NM_000335.5

p.D546E

c.1638T>G

1 paper

NM_000335.5

p.D546E

c.1638T>A

1 paper

NM_000335.5

p.E547K

c.1639G>A

1 paper

NM_000335.5

p.E547G

c.1640A>G

1 paper

NM_000335.5

p.E547E

c.1641A>G

1 paper

NM_000335.5

p.A544A

c.1632A>T

1 paper

NM_000335.5

p.A544A

c.1632A>G

1 paper

NM_000335.5

p.N548S

c.1643A>G

1 paper

NM_000335.5

p.A544T

c.1630G>A

1 paper

NM_000335.5

p.N548delFs

c.1643delT

5 papers

NM_000335.5

p.F543L

c.1629T>G