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

8 papers

NM_000335.5

p.A204E

c.611C>A

Surrounding Variants

8 papers

NM_000335.5

p.A204V

c.611C>T

1 paper

NM_000335.5

p.A204Splc

c.611+1G>T

1 paper

NM_000335.5

p.A204S

c.610G>T

2 papers

NM_000335.5

p.A204Splc

c.611+1G>C

11 papers

NM_000335.5

p.A204Splc

c.611+1G>A

1 paper

NM_000335.5

p.A204T

c.610G>A

2 papers

NM_000335.5

p.M203K

c.608T>A

1 paper

NM_000335.5

p.A204Splc

c.611+3A>G

1 paper

NM_000335.5

p.A204Splc

c.611+5G>A

1 paper

NM_000335.5

p.I202M

c.606C>G

1 paper

NM_000335.5

p.I202insFs

c.604_605insA

2 papers

NM_000335.5

p.I201T

c.602T>C