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.Y205C

c.614A>G

Surrounding Variants

1 paper

NM_000335.5

p.Y205F

c.614A>T

1 paper

NM_000335.5

p.Y205H

c.613T>C

1 paper

NM_000335.5

p.Y205N

c.613T>A

1 paper

NM_000335.5

p.Y205*

c.615C>G

1 paper

NM_000335.5

p.Y205*

c.615C>A

1 paper

NM_000335.5

p.T206fs

c.616_617fs

5 papers

NM_000335.5

p.A204V

c.611C>T

16 papers

NM_000335.5

p.A204E

c.611C>A

1 paper

NM_000335.5

p.T206K

c.617C>A

5 papers

NM_000335.5

p.A204Splc

c.612-2A>G

1 paper

NM_000335.5

p.T206delFs

c.617delG

1 paper

NM_000335.5

p.T207S

c.619A>T