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.P627A

c.1879C>G

Surrounding Variants

1 paper

NM_000335.5

p.P627fs

c.1879_1880fs

1 paper

NM_000335.5

p.P627S

c.1879C>T

5 papers

NM_000335.5

p.P627L

c.1880C>T

1 paper

NM_000335.5

p.P627delFs

c.1880delG

2 papers

NM_000335.5

p.E625fs

c.1873_1874fs

3 papers

NM_000335.5

p.L624insFs

c.1872dupA

3 papers

NM_000335.5

p.E625fs

c.1873_1874fs

1 paper

NM_000335.5

p.D629V

c.1886A>T

3 papers

NM_000335.5

p.D629G

c.1886A>G

1 paper

NM_000335.5

p.L618_D629delFs

c.1854_1885del32

2 papers

NM_000335.5

p.D629E

c.1887C>A

1 paper

NM_000335.5

p.L624I

c.1870C>A