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.S835A

c.2503T>G

Surrounding Variants

4 papers

NM_000335.5

p.S835L

c.2504C>T

2 papers

NM_000335.5

p.N834D

c.2500A>G

9 papers

NM_000335.5

p.G833R

c.2497G>C

10 papers

NM_000335.5

p.G833R

c.2497G>A

1 paper

NM_000335.5

p.G837R

c.2509G>A

1 paper

NM_000335.5

p.A838T

c.2512G>A

1 paper

NM_000335.5

p.G837delFs

c.2509delC

8 papers

NM_000335.5

p.L839P

c.2516T>C

1 paper

NM_000335.5

p.K830_I831insFs

c.2490_2491insT

3 papers

NM_000335.5

p.G840R

c.2518G>C

4 papers

NM_000335.5

p.G840R

c.2518G>A

1 paper

NM_000335.5

p.G840G

c.2520G>T