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.R34delFs

c.100delG

Surrounding Variants

1 paper

NM_000335.5

p.R34insFs

c.100_101insC

5 papers

NM_000335.5

p.R34H

c.101G>A

54 papers

NM_000335.5

p.R34C

c.100C>T

2 papers

NM_000335.5

p.R34R

c.102C>T

8 papers

NM_000335.5

p.R34fs

c.100_101fs

1 paper

NM_000335.5

p.R34S

c.100C>A

1 paper

NM_000335.5

p.R34fs

c.100_101fs

19 papers

NM_000335.5

p.G35S

c.103G>A

1 paper

NM_000335.5

p.A33A

c.99C>T

2 papers

NM_000335.5

p.A33V

c.98C>T

2 papers

NM_000335.5

p.S36A

c.106T>G

1 paper

NM_000335.5

p.Q32Q

c.96A>G