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.L56Q

c.167T>A

Surrounding Variants

1 paper

NM_000335.5

p.L56L

c.168G>A

1 paper

NM_000335.5

p.L56delFs

c.168delC

21 papers

NM_000335.5

p.Q55*

c.163C>T

1 paper

NM_000335.5

p.D57D

c.171C>T

2 papers

NM_000335.5

p.P54T

c.160C>A

8 papers

NM_000335.5

p.R53Q

c.158G>A

1 paper

NM_000335.5

p.Q59L

c.176A>T

1 paper

NM_000335.5

p.Q59R

c.176A>G

1 paper

NM_000335.5

p.L58_Q59ins0

c.173_175dupTGC

1 paper

NM_000335.5

p.Q59Q

c.177G>A

2 papers

NM_000335.5

p.R53W

c.157C>T

2 papers

NM_000335.5

p.A60P

c.178G>C