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

2 papers

NM_000335.5

p.E49K

c.145G>A

Surrounding Variants

1 paper

NM_000335.5

p.E49*

c.145G>T

2 papers

NM_000335.5

p.E48E

c.144G>A

1 paper

NM_000335.5

p.E49G

c.146A>G

3 papers

NM_000335.5

p.E48V

c.143A>T

1 paper

NM_000335.5

p.E48G

c.143A>G

1 paper

NM_000335.5

p.E48A

c.143A>C

1 paper

NM_000335.5

p.E50*

c.148G>T

12 papers

NM_000335.5

p.E48K

c.142G>A

1 paper

NM_000335.5

p.E50fs

c.148_149fs

1 paper

NM_000335.5

p.P47P

c.141C>T

1 paper

NM_000335.5

p.P47P

c.141C>A

1 paper

NM_000335.5

p.G45_E50insFs

c.133_148dup16