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.M725T

c.2174T>C

Surrounding Variants

1 paper

NM_000335.5

p.M725fs

c.2173_2174fs

1 paper

NM_000335.5

p.T724delFs

c.2172delA

2 papers

NM_000335.5

p.T724fs

c.2170_2171fs

1 paper

NM_000335.5

p.T724insFs

c.2170_2171insCC

2 papers

NM_000335.5

p.I723insFs

c.2168dupT

1 paper

NM_000335.5

p.I727I

c.2181C>T

2 papers

NM_000335.5

p.I723V

c.2167A>G

6 papers

NM_000335.5

p.V728I

c.2182G>A

1 paper

NM_000335.5

p.T722A

c.2164A>G

2 papers

NM_000335.5

p.V728_L729insFs

c.2184_2185insA

1 paper

NM_000335.5

p.L729fs

c.2185_2186fs

1 paper

NM_000335.5

p.L729R

c.2186T>G