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.P576T

c.1726C>A

Surrounding Variants

1 paper

NM_000335.5

p.P576A

c.1726C>G

1 paper

NM_000335.5

p.Q575H

c.1725G>C

2 papers

NM_000335.5

p.Q575*

c.1723C>T

1 paper

NM_000335.5

p.Q573_P576del4

c.1717_1727del12

1 paper

NM_000335.5

p.A572_P576del5

c.1714_1727del15

1 paper

NM_000335.5

p.S577N

c.1730G>A

2 papers

NM_000335.5

p.G574delFs

c.1721delC

1 paper

NM_000335.5

p.G574fs

c.1720_1721fs

1 paper

NM_000335.5

p.P578P

c.1734C>T

9 papers

NM_000335.5

p.G579R

c.1735G>C

9 papers

NM_000335.5

p.G579R

c.1735G>A

6 papers

NM_000335.5

p.Q573*

c.1717C>T