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.G180A

c.539G>C

Surrounding Variants

1 paper

NM_000335.5

p.G180S

c.538G>A

8 papers

NM_000335.5

p.R179Q

c.536G>A

14 papers

NM_000335.5

p.R179*

c.535C>T

1 paper

NM_000335.5

p.A178fs

c.532_533fs

2 papers

NM_000335.5

p.C182R

c.544T>C

3 papers

NM_000335.5

p.A178G

c.533C>G

4 papers

NM_000335.5

p.A178P

c.532G>C

3 papers

NM_000335.5

p.A178T

c.532G>A

1 paper

NM_000335.5

p.I176M

c.528T>G

14 papers

NM_000335.5

p.H184L

c.551A>T

2 papers

NM_000335.5

p.H184R

c.551A>G

1 paper

NM_000335.5

p.I176V

c.526A>G