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.D191_P192delFs

c.572_576del5

Surrounding Variants

2 papers

NM_000335.5

p.W193R

c.577T>C

2 papers

NM_000335.5

p.W193R

c.577T>A

1 paper

NM_000335.5

p.P192delFs

c.576delT

5 papers

NM_000335.5

p.W193*

c.578G>A

5 papers

NM_000335.5

p.W193*

c.579G>A

2 papers

NM_000335.5

p.P192S

c.574C>T

1 paper

NM_000335.5

p.N194S

c.581A>G

1 paper

NM_000335.5

p.W195S

c.584G>C

2 papers

NM_000335.5

p.W195*

c.584G>A

1 paper

NM_000335.5

p.W195delFs

c.583delA

1 paper

NM_000335.5

p.W195fs

c.583_584fs

16 papers

NM_000335.5

p.R190Q

c.569G>A