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.G652G

c.1956C>A

Surrounding Variants

1 paper

NM_000335.5

p.G652G

c.1956C>T

1 paper

NM_000335.5

p.V650_D651delFs

c.1950_1953del4

3 papers

NM_000335.5

p.E654*

c.1960G>T

7 papers

NM_000335.5

p.E654K

c.1960G>A

3 papers

NM_000335.5

p.E655K

c.1963G>A

2 papers

NM_000335.5

p.C649Y

c.1946G>A

1 paper

NM_000335.5

p.P656_G657ins5

c.1966_1970ins15

1 paper

NM_000335.5

p.C649R

c.1945T>C

7 papers

NM_000335.5

p.P656L

c.1967C>T

1 paper

NM_000335.5

p.G657R

c.1969G>A

22 papers

NM_000335.5

p.P648L

c.1943C>T

1 paper

NM_000335.5

p.P648Q

c.1943C>A