Gene Location [1]
Kinase fusions, MAP kinase signaling
Variant Type
Substitution - Missense
Affected Exon Number
Protein Domain [2]
Protein kinase
SIFT Prediction [3]
ClinVar Prediction [3]

BRAF V600E is present in 3.04% of AACR GENIE cases, with melanoma, colorectal adenocarcinoma, thyroid gland neoplasm, non-small cell lung carcinoma, and malignant glioma having the greatest prevalence [4].

Top Disease Cases with BRAF V600E

Biomarker-Directed Therapies

Significance of BRAF V600E in Diseases

Melanoma +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Hairy Cell Leukemia +

Mature B-Cell Lymphoma/Leukemia +

Malignant Solid Tumor +

Multiple Myeloma +

Glioma +

Thyroid Gland Papillary Carcinoma +

Cutaneous Melanoma +

Non-Hodgkin Lymphoma +

Thyroid Gland Carcinoma +

Thyroid Gland Adenocarcinoma +

Cancer +

Cholangiocarcinoma +

Gastrointestinal Stromal Tumor +

Lymphoma +

Histiocytosis +

Ovarian Carcinoma +

Papillary Craniopharyngioma +

Langerhans Cell Histiocytosis +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Poorly Differentiated Thyroid Gland Carcinoma +

Colorectal Adenocarcinoma +

Glioblastoma +

Rectal Carcinoma +

Solid Neoplasm +

Chronic Lymphocytic Leukemia +

Bladder Carcinoma +

Breast Carcinoma +

Ameloblastoma +

Gastric Carcinoma +

Germ Cell Tumor +

Head And Neck Squamous Cell Carcinoma +

Hodgkin Lymphoma +

Metastatic Malignant Neoplasm In The Brain +

Neurofibroma +

Prostate Carcinoma +

Small Intestinal Adenocarcinoma +

Splenic Diffuse Red Pulp Small B-Cell Lymphoma +

Thyroid Gland Follicular Carcinoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.