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.S554S

c.1662C>T

Surrounding Variants

1 paper

NM_000335.5

p.S554fs

c.1660_1661fs

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.E555insFs

c.1663_1664insG

5 papers

NM_000335.5

p.E553*

c.1657G>T

2 papers

NM_000335.5

p.G552A

c.1655G>C

3 papers

NM_000335.5

p.G552W

c.1654G>T

10 papers

NM_000335.5

p.G552R

c.1654G>C

10 papers

NM_000335.5

p.G552R

c.1654G>A

1 paper

NM_000335.5

p.A551A

c.1653G>A

4 papers

NM_000335.5

p.A551V

c.1652C>T

2 papers

NM_000335.5

p.A551E

c.1652C>A