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Gene

RAF1

Raf-1 proto-oncogene, serine/threonine kinase

Summary

Cytogenetic location
3p25.2
Coordinates
Chromosome 3: 12,583,601–12,664,117 (GRCh38)
Exons
17 exons across 80.5 kb
Protein
648 amino acids
Inheritance
Autosomal dominant
Also known as
Raf-1, c-Raf, CRAF
MANE Select transcript
ENST00000251849.9NM_002880.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • Dilated Cardiomyopathy

    • Enlargement and weakening of the left ventricle not explained by coronary artery or valve disease; inherited forms involve TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN and many other genes, and include Barth syndrome and the Emery-Dreifuss muscular dystrophies.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing a genetic cause supports earlier heart monitoring and family screening, and for genes with a high arrhythmia risk such as LMNA, FLNC and RBM20 it informs decisions about rhythm monitoring and implantable defibrillators.

  • Noonan Syndrome

    • Autosomal dominant

      Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      Cardiac surveillance, developmental support, growth hormone therapy, genetic counseling, MEK inhibitor trials

    • Noonan Syndrome and Noonan-Related Syndromes

      A group of RAS pathway conditions, including Noonan, Costello, cardiofaciocutaneous and Legius syndromes, with variable heart defects, short stature and distinctive facial features.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it supports heart, growth and developmental assessment.

Broader groupings

  • Hypertrophic Cardiomyopathy

    • Autosomal dominant

      One of 62 genes linked to it

      A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How RAF1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 3, with a bracket where RAF1 sits. RAF1 and 11 genes near it on chromosome 3, from 12,123,859 to 13,123,858.Chromosome 33p25.2p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q2912.2 Mb12.4 Mb12.6 Mb12.8 Mb13 MbSYN2: 12,004,325–12,192,032, forward strandSYN2TIMP4: 12,149,834–12,159,395, reverse strandTIMP4PPARG: 12,287,368–12,455,622, forward strandPPARGTSEN2: 12,480,529–12,541,549, forward strandTSEN2MKRN2OS: 12,514,934–12,561,059, reverse strandMKRN2OSMKRN2: 12,557,011–12,603,555, forward strandMKRN2RAF1: 12,583,601–12,664,117, reverse strandRAF1TMEM40: 12,733,528–12,769,457, reverse strandTMEM40CAND2: 12,796,472–12,836,433, forward strandCAND2: 12,825,768–12,871,919, forward strandRPL32: 12,834,467–12,841,587, reverse strandRPL32IQSEC1: 12,897,043–13,283,281, reverse strandIQSEC1Diagram of RAF1: 17 exons on the reverse strand of chromosome 3Exon 17: 2 known disease-causing sitesExon 14: 4 known disease-causing sitesExon 12: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 7: 16 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 17: 12,583,601–12,584,657, 1,057 basesExon 16: 12,584,847–12,584,981, 135 basesExon 15: 12,585,122–12,585,253, 132 basesExon 14: 12,585,681–12,585,799, 119 basesExon 13: 12,587,591–12,587,637, 47 basesExon 12: 12,590,798–12,590,974, 177 basesExon 11: 12,591,708–12,591,792, 85 basesExon 10: 12,599,691–12,599,808, 118 basesExon 9: 12,600,152–12,600,279, 128 basesExon 8: 12,600,388–12,600,415, 28 basesExon 7: 12,604,136–12,604,289, 154 bases. 2 variants with a page in exon 7. List themExon 6: 12,606,201–12,606,299, 99 basesExon 5: 12,608,766–12,608,923, 158 basesExon 4: 12,609,233–12,609,335, 103 basesExon 3: 12,611,950–12,612,062, 113 basesExon 2: 12,618,515–12,618,747, 233 basesExon 1: 12,663,813–12,664,117, 305 bases171015′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.2 kb of the gene's 80.5 kb; 1,947 of those bases code for the protein.

How a genome test reads RAF1

28

positions in RAF1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 80.5 kb of RAF1, introns included, not only the 3.2 kb of exons.

Variants with a page (2)

The RAF1 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
P261Sc.781C>TExon 712,604,189Pathogenic3 stars out of 4 reviewed by expert panel
S257Lc.770C>TExon 712,604,200Pathogenic3 stars out of 4 reviewed by expert panel

Genes linked to the same conditions

Traits linked to RAF1

The Human Phenotype Ontology lists these as features of the rare conditions RAF1 can cause. Each trait's page lists the other genes linked to it.

Abnormality of the cardiovascular system

Show 20 more traits

External links

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). RAF1 gene: Raf-1 proto-oncogene, serine/threonine kinase. Retrieved 17 October 2026, from https://dantelabs.com/genes/raf1

Vancouver

Dante Labs. RAF1 gene: Raf-1 proto-oncogene, serine/threonine kinase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/raf1

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