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.I966V

c.2896A>G

Surrounding Variants

1 paper

NM_000335.5

p.R965L

c.2894G>T

1 paper

NM_000335.5

p.R965insFs

c.2893_2894insC

11 papers

NM_000335.5

p.R965H

c.2894G>A

58 papers

NM_000335.5

p.R965C

c.2893C>T

1 paper

NM_000335.5

p.R965G

c.2893C>G

1 paper

NM_000335.5

p.A964T

c.2890G>A

1 paper

NM_000335.5

p.L963L

c.2889G>A

1 paper

NM_000335.5

p.G969C

c.2905G>T

1 paper

NM_000335.5

p.A962A

c.2886C>T

4 papers

NM_000335.5

p.R971C

c.2911C>T

1 paper

NM_000335.5

p.L961V

c.2881C>G

1 paper

NM_000335.5

p.R971H

c.2912G>A