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

8 papers

NM_000335.5

p.E30G

c.89A>G

Surrounding Variants

1 paper

NM_000335.5

p.E30insFs

c.89dupA

1 paper

NM_000335.5

p.E30Q

c.88G>C

26 papers

NM_000335.5

p.A29A

c.87A>G

2 papers

NM_000335.5

p.A29V

c.86C>T

1 paper

NM_000335.5

p.A29insFs

c.86_87insA

1 paper

NM_000335.5

p.M28R

c.83T>G

1 paper

NM_000335.5

p.M28K

c.83T>A

2 papers

NM_000335.5

p.Q32R

c.95A>G

1 paper

NM_000335.5

p.M28L

c.82A>T

1 paper

NM_000335.5

p.Q32Q

c.96A>G

1 paper

NM_000335.5

p.M28L

c.82A>C

1 paper

NM_000335.5

p.R27R

c.81C>T