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.N291S

c.872A>G

Surrounding Variants

3 papers

NM_000335.5

p.N291H

c.871A>C

4 papers

NM_000335.5

p.T290delFs

c.870delG

18 papers

NM_000335.5

p.G292S

c.874G>A

1 paper

NM_000335.5

p.T290T

c.870C>G

1 paper

NM_000335.5

p.T290fs

c.868_869fs

1 paper

NM_000335.5

p.G292A

c.875G>C

2 papers

NM_000335.5

p.G292D

c.875G>A

1 paper

NM_000335.5

p.G289insFs

c.866_867insTA

4 papers

NM_000335.5

p.G289S

c.865G>A

18 papers

NM_000335.5

p.V294M

c.880G>A

1 paper

NM_000335.5

p.E295K

c.883G>A

1 paper

NM_000335.5

p.L287L

c.861C>T