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.V200M

c.598G>A

Surrounding Variants

2 papers

NM_000335.5

p.S199N

c.596G>A

1 paper

NM_000335.5

p.L196_F198insFs

c.587_594dup8

2 papers

NM_000335.5

p.I201T

c.602T>C

2 papers

NM_000335.5

p.F198L

c.594T>A

1 paper

NM_000335.5

p.I202insFs

c.604_605insA

1 paper

NM_000335.5

p.I202M

c.606C>G

3 papers

NM_000335.5

p.D197V

c.590A>T

4 papers

NM_000335.5

p.D197Y

c.589G>T

5 papers

NM_000335.5

p.D197H

c.589G>C

3 papers

NM_000335.5

p.D197N

c.589G>A

2 papers

NM_000335.5

p.M203K

c.608T>A

1 paper

NM_000335.5

p.L196delFs

c.586_587delAG