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.S131Splc

c.393-2A>G

Surrounding Variants

8 papers

NM_000335.5

p.S131Splc

c.393-1C>T

1 paper

NM_000335.5

p.S131Splc

c.393-4G>A

2 papers

NM_000335.5

p.S131Splc

c.393-5C>T

11 papers

NM_000335.5

p.S131Splc

c.393-5C>A

1 paper

NM_000335.5

p.S131Splc

c.393-7C>A

1 paper

NM_000335.5

p.L132delFs

c.396delG

1 paper

NM_000335.5

p.N134Y

c.400A>T

1 paper

NM_000335.5

p.N134fs

c.400_401fs

1 paper

NM_000335.5

p.N134insFs

c.401dupA

2 papers

NM_000335.5

p.N134K

c.402C>A

1 paper

NM_000335.5

p.M135V

c.403A>G

1 paper

NM_000335.5

p.L136I

c.406C>A