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.K430E

c.1288A>G

Surrounding Variants

1 paper

NM_000335.5

p.K430R

c.1289A>G

1 paper

NM_000335.5

p.E429A

c.1286A>C

2 papers

NM_000335.5

p.E431K

c.1291G>A

2 papers

NM_000335.5

p.E429K

c.1285G>A

22 papers

NM_000335.5

p.E428K

c.1282G>A

5 papers

NM_000335.5

p.K432E

c.1294A>G

1 paper

NM_000335.5

p.K432R

c.1295A>G

1 paper

NM_000335.5

p.T427S

c.1280C>G

3 papers

NM_000335.5

p.R433C

c.1297C>T

2 papers

NM_000335.5

p.R433H

c.1298G>A

2 papers

NM_000335.5

p.F434F

c.1302C>T

2 papers

NM_000335.5

p.A425T

c.1273G>A