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.K237E

c.709A>G

Surrounding Variants

1 paper

NM_000335.5

p.L236_K237delins

c.707_710delinsCCTG

3 papers

NM_000335.5

p.L236R

c.707T>G

1 paper

NM_000335.5

p.L236P

c.707T>C

1 paper

NM_000335.5

p.G235delFs

c.705delC

1 paper

NM_000335.5

p.T238I

c.713C>T

1 paper

NM_000335.5

p.G235Splc

c.704-1G>C

8 papers

NM_000335.5

p.I239V

c.715A>G

4 papers

NM_000335.5

p.I239I

c.717C>T

1 paper

NM_000335.5

p.G235Splc

c.704-3C>G

14 papers

NM_000335.5

p.V240M

c.718G>A

1 paper

NM_000335.5

p.I239_V240delFs

c.715_719del5

1 paper

NM_000335.5

p.A242T

c.724G>A