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

7 papers

NM_000335.5

p.A124D

c.371C>A

Surrounding Variants

1 paper

NM_000335.5

p.A124P

c.370G>C

13 papers

NM_000335.5

p.V125L

c.373G>T

13 papers

NM_000335.5

p.V125L

c.373G>C

4 papers

NM_000335.5

p.V125M

c.373G>A

1 paper

NM_000335.5

p.A123A

c.369G>A

2 papers

NM_000335.5

p.A123V

c.368C>T

1 paper

NM_000335.5

p.A123insFs

c.368_369insT

1 paper

NM_000335.5

p.A123E

c.368C>A

1 paper

NM_000335.5

p.R122_A123Fs

c.366_367delinsCFs

12 papers

NM_000335.5

p.K126E

c.376A>G

1 paper

NM_000335.5

p.R122fs

c.364_365fs

1 paper

NM_000335.5

p.I127N

c.380T>A