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.N826D

c.2476A>G

Surrounding Variants

1 paper

NM_000335.5

p.T824I

c.2471C>T

1 paper

NM_000335.5

p.T824insFs

c.2471_2472insG

12 papers

NM_000335.5

p.L828F

c.2482C>T

3 papers

NM_000335.5

p.L828V

c.2482C>G

2 papers

NM_000335.5

p.P823S

c.2467C>T

2 papers

NM_000335.5

p.W822C

c.2466G>T

2 papers

NM_000335.5

p.W822C

c.2466G>C

36 papers

NM_000335.5

p.W822*

c.2466G>A

36 papers

NM_000335.5

p.W822*

c.2465G>A

1 paper

NM_000335.5

p.K830_I831insFs

c.2490_2491insT

1 paper

NM_000335.5

p.K820*

c.2458A>T

9 papers

NM_000335.5

p.G833R

c.2497G>C