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.K228E

c.682A>G

Surrounding Variants

2 papers

NM_000335.5

p.L227P

c.680T>C

1 paper

NM_000335.5

p.T229T

c.687T>C

41 papers

NM_000335.5

p.A226V

c.677C>T

5 papers

NM_000335.5

p.A226D

c.677C>A

1 paper

NM_000335.5

p.A226fs

c.676_677fs

5 papers

NM_000335.5

p.I230V

c.688A>G

13 papers

NM_000335.5

p.I230T

c.689T>C

1 paper

NM_000335.5

p.R225L

c.674G>T

34 papers

NM_000335.5

p.R225P

c.674G>C

24 papers

NM_000335.5

p.R225Q

c.674G>A

1 paper

NM_000335.5

p.I230M

c.690A>G

96 papers

NM_000335.5

p.R225W

c.673C>T