Skip to content
GenoLensGenoLens

BRAF

Chr 7q34

B-Raf proto-oncogene, serine/threonine kinase

Aliases:
BRAF1, BRAF-1
MANE:
ENST00000646891.2

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Childhood solid tumours cancer susceptibility

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Early onset or syndromic epilepsy

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal hydrops

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • IUGR and IGF abnormalities

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Monogenic short stature

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

+16 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

  • cardiofaciocutaneous syndrome

    0.88
  • Noonan syndrome

    0.84
  • melanoma

    0.82
  • cardiofaciocutaneous syndrome 1

    0.76
  • Noonan syndrome 7

    0.76
  • LEOPARD syndrome 3

    0.76
  • Noonan syndrome with multiple lentigines

    0.75
  • colorectal cancer

    0.75
  • cancer

    0.71
  • lung cancer

    0.70

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Serine/threonine-protein kinase B-raf

Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus (Probable). Phosphorylates MAP2K1, and thereby activates the MAP kinase signal transduction pathway (PubMed:21441910, PubMed:29433126). Phosphorylates PFKFB2 (PubMed:36402789). May play a role in the postsynaptic responses of hippocampal neurons (PubMed:1508179)

Curated MONDO disease pages that list BRAF among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.