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.V601A

c.1802T>C

Surrounding Variants

1 paper

NM_000335.5

p.V601I

c.1801G>A

1 paper

NM_000335.5

p.G599_V600delFs

c.1797_1798delCC

2 papers

NM_000335.5

p.S602*

c.1805C>G

2 papers

NM_000335.5

p.S602*

c.1805C>A

1 paper

NM_000335.5

p.V600L

c.1798G>C

1 paper

NM_000335.5

p.V600fs

c.1798_1799fs

1 paper

NM_000335.5

p.L604V

c.1810C>G

2 papers

NM_000335.5

p.N598S

c.1793A>G

3 papers

NM_000335.5

p.C597Y

c.1790G>A

1 paper

NM_000335.5

p.A606S

c.1816G>T

1 paper

NM_000335.5

p.A606insFs

c.1816_1817insT

2 papers

NM_000335.5

p.D596G

c.1787A>G