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.V247L

c.739G>T

Surrounding Variants

2 papers

NM_000335.5

p.V247L

c.739G>C

1 paper

NM_000335.5

p.V247insFs

c.740_741insT

1 paper

NM_000335.5

p.S246P

c.736T>C

1 paper

NM_000335.5

p.Q245Q

c.735G>A

1 paper

NM_000335.5

p.K248R

c.743A>G

2 papers

NM_000335.5

p.K248N

c.744G>C

2 papers

NM_000335.5

p.K248K

c.744G>A

12 papers

NM_000335.5

p.Q245K

c.733C>A

3 papers

NM_000335.5

p.K249*

c.745A>T

1 paper

NM_000335.5

p.I244T

c.731T>C

1 paper

NM_000335.5

p.K249K

c.747G>A

1 paper

NM_000335.5

p.L250P

c.749T>C