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.T220A

c.658A>G

Surrounding Variants

89 papers

NM_000335.5

p.T220I

c.659C>T

1 paper

NM_000335.5

p.R219insFs

c.656_657ins5

2 papers

NM_000335.5

p.R219P

c.656G>C

45 papers

NM_000335.5

p.R219H

c.656G>A

17 papers

NM_000335.5

p.R219C

c.655C>T

2 papers

NM_000335.5

p.F221L

c.663C>A

1 paper

NM_000335.5

p.L218V

c.652T>G

25 papers

NM_000335.5

p.R222*

c.664C>T

5 papers

NM_000335.5

p.R222G

c.664C>G

5 papers

NM_000335.5

p.R222P

c.665G>C

133 papers

NM_000335.5

p.R222Q

c.665G>A

4 papers

NM_000335.5

p.V223L

c.667G>C