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.L243Q

c.728T>A

Surrounding Variants

1 paper

NM_000335.5

p.I244T

c.731T>C

1 paper

NM_000335.5

p.A242V

c.725C>T

4 papers

NM_000335.5

p.A242G

c.725C>G

1 paper

NM_000335.5

p.A242D

c.725C>A

1 paper

NM_000335.5

p.A242delFs

c.724delC

1 paper

NM_000335.5

p.A242T

c.724G>A

12 papers

NM_000335.5

p.Q245K

c.733C>A

1 paper

NM_000335.5

p.Q245Q

c.735G>A

1 paper

NM_000335.5

p.S246P

c.736T>C

1 paper

NM_000335.5

p.I239_V240delFs

c.715_719del5

14 papers

NM_000335.5

p.V240M

c.718G>A

2 papers

NM_000335.5

p.V247L

c.739G>T