RAF1 Raf-1 proto-oncogene, serine/threonine kinase

Gene info

Synonyms

Raf-1, c-Raf, CRAF

Previous symbol

None

External ID

HGNC: 9829
Entrez Gene: 5894
Ensembl: ENSG00000132155
UCSC: uc003bxf.5
OMIM: 164760
UniProtKB: P04049

Disease info

CHD Phenotype

  • Atrial septal defect
  • Patent foramen ovale
  • Pulmonary stenosis
  • Tetralogy of fallot
  • Ventricular septal defect
  • Pulmonary valve dysplasia

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Mice heterozygous for a single base mutation have CHD

MGI ID

Variant info

Clinvar

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

Download annotation file for RAF1: BED file

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Selected References

  1. Ko, J. M., Kim, J.-M., Kim, G.-H., & Yoo, H.-W. (2008). PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome. Journal of Human Genetics, 53(11-12), 999–1006. DOI:10.1007/s10038-008-0343-6 PMID:19020799
  2. Razzaque, M. A., Nishizawa, T., Komoike, Y., Yagi, H., Furutani, M., Amo, R., … Matsuoka, R. (2007). Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nature Genetics, 39(8), 1013–1017. DOI:10.1038/ng2078 PMID:17603482