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

2 papers

NM_000335.5

p.P192S

c.574C>T

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

1 paper

NM_000335.5

p.D191_P192delFs

c.572_576del5

5 papers

NM_000335.5

p.W193*

c.578G>A

16 papers

NM_000335.5

p.R190Q

c.569G>A

5 papers

NM_000335.5

p.W193*

c.579G>A

1 paper

NM_000335.5

p.T187_R190del0

c.560_568del9

11 papers

NM_000335.5

p.R190W

c.568C>T

7 papers

NM_000335.5

p.R190G

c.568C>G

1 paper

NM_000335.5

p.R190R

c.568C>A

1 paper

NM_000335.5

p.N194S

c.581A>G