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Gene

BRAF

B-Raf proto-oncogene, serine/threonine kinase

Summary

Cytogenetic location
7q34
Coordinates
Chromosome 7: 140,730,665–140,924,929 (GRCh38)
Exons
18 exons across 194.3 kb
Protein
766 amino acids
Inheritance
Autosomal dominant
Also known as
BRAF1, BRAF-1
MANE Select transcript
ENST00000646891.2NM_004333.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Noonan Syndrome

    • Autosomal dominant

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

      • ClinGen rates the link moderate
      • 4 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 BRAF 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 7, with a bracket where BRAF sits. BRAF and 8 genes near it on chromosome 7, from 140,327,797 to 141,327,796.Chromosome 77q34p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.3140.4 Mb140.6 Mb140.8 Mb141 Mb141.2 MbSLC37A3: 140,293,693–140,404,433, reverse strandSLC37A3RAB19: 140,404,043–140,427,974, forward strandRAB19MKRN1: 140,453,033–140,479,552, reverse strandMKRN1DENND2A: 140,518,418–140,673,993, reverse strandDENND2AADCK2: 140,672,885–140,696,261, forward strandADCK2NDUFB2: 140,690,777–140,723,923, forward strandNDUFB2BRAF: 140,730,665–140,924,929, reverse strandBRAFMRPS33: 141,002,610–141,015,286, reverse strandMRPS33TMEM178B: 141,074,038–141,480,380, forward strandTMEM178BDiagram of BRAF: 18 exons on the reverse strand of chromosome 7Exon 18: 3 known disease-causing sitesExon 17: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 15: 17 known disease-causing sitesExon 14: 5 known disease-causing sitesExon 13: 6 known disease-causing sitesExon 12: 14 known disease-causing sitesExon 11: 11 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 6: 16 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 18: 140,730,665–140,734,770, 4,106 basesExon 17: 140,739,812–140,739,946, 135 basesExon 16: 140,749,287–140,749,418, 132 basesExon 15: 140,753,275–140,753,393, 119 basesExon 14: 140,754,187–140,754,233, 47 bases. 1 variant with a page in exon 14. List themExon 13: 140,776,912–140,777,088, 177 basesExon 12: 140,777,991–140,778,075, 85 basesExon 11: 140,781,576–140,781,693, 118 basesExon 10: 140,783,021–140,783,157, 137 basesExon 9: 140,787,548–140,787,584, 37 basesExon 8: 140,794,308–140,794,467, 160 basesExon 7: 140,800,362–140,800,481, 120 basesExon 6: 140,801,412–140,801,560, 149 bases. 9 variants with a page in exon 6. List themExon 5: 140,807,960–140,808,062, 103 basesExon 4: 140,808,892–140,808,995, 104 basesExon 3: 140,834,609–140,834,872, 264 basesExon 2: 140,850,111–140,850,212, 102 basesExon 1: 140,924,566–140,924,929, 364 bases1816141210864215′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 6.5 kb of the gene's 194.3 kb; 2,301 of those bases code for the protein.

How a genome test reads BRAF

78

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

4 of them (5.1%) fall in regions short reads find hard.

  • Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (3 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 194.3 kb of BRAF, introns included, not only the 6.5 kb of exons.

Variants with a page (10)

The BRAF 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
A246Pc.736G>CExon 6140,801,536Pathogenic3 stars out of 4 reviewed by expert panel
c.735A>TExon 6140,801,537Pathogenic3 stars out of 4 reviewed by expert panel
c.739T>CExon 6140,801,533Pathogenic3 stars out of 4 reviewed by expert panel
F247Lc.741T>GExon 6140,801,531Pathogenic3 stars out of 4 reviewed by expert panel
F247Sc.740T>CExon 6140,801,532Likely pathogenic3 stars out of 4 reviewed by expert panel
F247Vc.739T>GExon 6140,801,533Likely pathogenic3 stars out of 4 reviewed by expert panel
L245Fc.735A>CExon 6140,801,537Pathogenic3 stars out of 4 reviewed by expert panel
N581Dc.1741A>GExon 14140,754,187Pathogenic3 stars out of 4 reviewed by expert panel
Q257Rc.770A>GExon 6140,801,502Pathogenic3 stars out of 4 reviewed by expert panel
T244Pc.730A>CExon 6140,801,542Pathogenic3 stars out of 4 reviewed by expert panel

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.). BRAF gene: B-Raf proto-oncogene, serine/threonine kinase. Retrieved 16 October 2026, from https://dantelabs.com/genes/braf

Vancouver

Dante Labs. BRAF gene: B-Raf proto-oncogene, serine/threonine kinase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/braf

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