MAPK1 mitogen-activated protein kinase 1

Gene info

Synonyms

Extracellular signal-regulated kinase 2

Previous symbol

PRKM2|PRKM1

External ID

HGNC: 6871
Entrez Gene: 5594
Ensembl: ENSG00000100030
UCSC: uc002zvn.4
OMIM: 176948
UniProtKB: P28482

Disease info

Disease

None

CHD Phenotype

  • Atrial septal defect
  • Mitral valve insufficiency

Extra Cardiac Phenotype

Developmental delay, intellectual disability, craniofacial anomalies, mild skeletal defects

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Homozygous mutant embryos implant in the uterus, but die shortly thereafter failing to form extraembryonic tissues

MGI ID

1346858

Variant info

Clinvar

MAPK1

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

No variant passing our criteria was found for MAPK1.

Selected References

  1. https://panelapp.agha.umccr.org/panels/76/gene/MAPK1/