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.E555insFs

c.1663_1664insG

Surrounding Variants

7 papers

NM_000335.5

p.E555*

c.1663G>T

11 papers

NM_000335.5

p.E555K

c.1663G>A

1 paper

NM_000335.5

p.S554S

c.1662C>T

1 paper

NM_000335.5

p.S554fs

c.1660_1661fs

5 papers

NM_000335.5

p.E553*

c.1657G>T

2 papers

NM_000335.5

p.H558fs

c.1672_1673fs

2 papers

NM_000335.5

p.G552A

c.1655G>C

1 paper

NM_000335.5

p.H558L

c.1673A>T

410 papers

NM_000335.5

p.H558R

c.1673A>G

2 papers

NM_000335.5

p.H558delFs

c.1672delG

3 papers

NM_000335.5

p.G552W

c.1654G>T

10 papers

NM_000335.5

p.G552R

c.1654G>C