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

3 papers

NM_000335.5

p.Q371*

c.1111C>T

Surrounding Variants

5 papers

NM_000335.5

p.Q371E

c.1111C>G

2 papers

NM_000335.5

p.Q371R

c.1112A>G

1 paper

NM_000335.5

p.Q371H

c.1113G>T

12 papers

NM_000335.5

p.T370M

c.1109C>T

2 papers

NM_000335.5

p.D372H

c.1114G>C

2 papers

NM_000335.5

p.D372V

c.1115A>T

1 paper

NM_000335.5

p.D372A

c.1115A>C

12 papers

NM_000335.5

p.M369K

c.1106T>A

2 papers

NM_000335.5

p.C373R

c.1117T>C

2 papers

NM_000335.5

p.C373S

c.1117T>A

1 paper

NM_000335.5

p.M369L

c.1105A>T

1 paper

NM_000335.5

p.M369L

c.1105A>C