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.P621H

c.1862C>A

Surrounding Variants

1 paper

NM_000335.5

p.P621delFs

c.1862delG

25 papers

NM_000335.5

p.R620H

c.1859G>A

16 papers

NM_000335.5

p.R620C

c.1858C>T

2 papers

NM_000335.5

p.M623V

c.1867A>G

34 papers

NM_000335.5

p.L619F

c.1855C>T

1 paper

NM_000335.5

p.L624I

c.1870C>A

39 papers

NM_000335.5

p.L618F

c.1852C>T

2 papers

NM_000335.5

p.L618I

c.1852C>A

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.H617L

c.1850A>T

2 papers

NM_000335.5

p.E625fs

c.1873_1874fs