BRAF V600D

Variant type

missense mutation

Location

Chromosome 7

Exon

8

Protein change

p.V600D

cDNA change

-

Genomic coordinate

Chromosome 7

FATHMM prediction

-

Variant category

I

Variant description

The V600 is the most frequently reported BRAF missense mutation in which the amino acid is substituted at position 600 of BRAF(PMID: 21639808; 21129611). This mutation occurs within the activation segment of the kinase domain (exon 15). BRAF V600E mutations are associated with increased sensitivity to BRAF inhibitors (PMID: 21639808​; 22805292; 24445759; 22735384; 22356324). Vemurafenib, dabrafenib and trametinib have been aproved by the FDA for the treatment of patients with unresectable or metastatic melanoma with BRAF V600E.

Variant frequence

This section displays the distribution of mutated samples and tissue types (top 5).

Accoiciated drug