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.F272fs

c.814_815fs

Surrounding Variants

1 paper

NM_000335.5

p.L271L

c.813C>G

1 paper

NM_000335.5

p.Q270_L271insFs

c.809_812dup4

1 paper

NM_000335.5

p.L271insFs

c.812_813ins4

1 paper

NM_000335.5

p.F272F

c.816C>T

1 paper

NM_000335.5

p.M273V

c.817A>G

2 papers

NM_000335.5

p.Q270R

c.809A>G

1 paper

NM_000335.5

p.G274R

c.820G>C

2 papers

NM_000335.5

p.G274S

c.820G>A

9 papers

NM_000335.5

p.Q270K

c.808C>A

1 paper

NM_000335.5

p.G268G

c.804C>T

1 paper

NM_000335.5

p.N275insFs

c.824_825insG

2 papers

NM_000335.5

p.N275N

c.825C>T