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.A296A

c.888C>G

Surrounding Variants

1 paper

NM_000335.5

p.D297N

c.889G>A

1 paper

NM_000335.5

p.A296T

c.886G>A

41 papers

NM_000335.5

p.G298S

c.892G>A

1 paper

NM_000335.5

p.E295insFs

c.883dupG

1 paper

NM_000335.5

p.E295K

c.883G>A

6 papers

NM_000335.5

p.L299M

c.895T>A

18 papers

NM_000335.5

p.V294M

c.880G>A

1 paper

NM_000335.5

p.L299F

c.897G>C

2 papers

NM_000335.5

p.V300I

c.898G>A

2 papers

NM_000335.5

p.V300V

c.900C>A

1 paper

NM_000335.5

p.G292A

c.875G>C

2 papers

NM_000335.5

p.G292D

c.875G>A