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

11 papers

NM_000335.5

p.Q573E

c.1717C>G

Surrounding Variants

6 papers

NM_000335.5

p.Q573*

c.1717C>T

3 papers

NM_000335.5

p.A572V

c.1715C>T

76 papers

NM_000335.5

p.A572D

c.1715C>A

4 papers

NM_000335.5

p.A572S

c.1714G>T

3 papers

NM_000335.5

p.A572T

c.1714G>A

1 paper

NM_000335.5

p.G574fs

c.1720_1721fs

4 papers

NM_000335.5

p.S571I

c.1712G>T

6 papers

NM_000335.5

p.S571T

c.1712G>C

2 papers

NM_000335.5

p.G574delFs

c.1721delC

1 paper

NM_000335.5

p.S571fs

c.1711_1712fs

2 papers

NM_000335.5

p.Q575*

c.1723C>T

1 paper

NM_000335.5

p.T570insFs

c.1710dupC