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

4 papers

NM_000335.5

p.D197Y

c.589G>T

Surrounding Variants

5 papers

NM_000335.5

p.D197H

c.589G>C

3 papers

NM_000335.5

p.D197N

c.589G>A

1 paper

NM_000335.5

p.L196delFs

c.586_587delAG

3 papers

NM_000335.5

p.D197V

c.590A>T

1 paper

NM_000335.5

p.W195fs

c.583_584fs

2 papers

NM_000335.5

p.W195*

c.585G>A

2 papers

NM_000335.5

p.F198L

c.594T>A

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.L196_F198insFs

c.587_594dup8

2 papers

NM_000335.5

p.S199N

c.596G>A