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

3 papers

NM_000335.5

p.E747A

c.2240A>C

Surrounding Variants

1 paper

NM_000335.5

p.E747del1

c.2239_2240delCTC

1 paper

NM_000335.5

p.E746A

c.2237A>C

1 paper

NM_000335.5

p.M748I

c.2244G>T

1 paper

NM_000335.5

p.M748I

c.2244G>C

12 papers

NM_000335.5

p.E746K

c.2236G>A

1 paper

NM_000335.5

p.M748I

c.2244G>A

1 paper

NM_000335.5

p.L749Fs

c.2245delinsTTTFs

4 papers

NM_000335.5

p.Q750R

c.2249A>G

1 paper

NM_000335.5

p.E744A

c.2231A>C

2 papers

NM_000335.5

p.V751I

c.2251G>A

40 papers

NM_000335.5

p.G752R

c.2254G>C

42 papers

NM_000335.5

p.G752R

c.2254G>A