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.Y68*

c.204T>G

Surrounding Variants

1 paper

NM_000335.5

p.Y68Y

c.204T>C

2 papers

NM_000335.5

p.Y68*

c.204T>A

2 papers

NM_000335.5

p.Y68F

c.203A>T

1 paper

NM_000335.5

p.Y68H

c.202T>C

1 paper

NM_000335.5

p.G69D

c.206G>A

1 paper

NM_000335.5

p.L67F

c.199C>T

1 paper

NM_000335.5

p.L67I

c.199C>A

1 paper

NM_000335.5

p.N70I

c.209A>T

1 paper

NM_000335.5

p.N70S

c.209A>G

6 papers

NM_000335.5

p.N70K

c.210T>G

1 paper

NM_000335.5

p.D66D

c.198T>C

6 papers

NM_000335.5

p.N70K

c.210T>A