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.F851fs

c.2551_2552fs

Surrounding Variants

10 papers

NM_000335.5

p.F851L

c.2553C>G

1 paper

NM_000335.5

p.F851ins1

c.2551_2552insTTG

10 papers

NM_000335.5

p.F851L

c.2553C>A

19 papers

NM_000335.5

p.F851insFs

c.2551_2552insTG

2 papers

NM_000335.5

p.F851insFs

c.2551_2552insGT

10 papers

NM_000335.5

p.F851L

c.2551T>C

4 papers

NM_000335.5

p.F851fs

c.2551_2552fs

1 paper

NM_000335.5

p.V850fs

c.2548_2549fs

1 paper

NM_000335.5

p.F853L

c.2557T>C

2 papers

NM_000335.5

p.F853fs

c.2557_2558fs

1 paper

NM_000335.5

p.V850M

c.2548G>A

1 paper

NM_000335.5

p.F853L

c.2559T>G