GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
BRAF G6Dinsufficiently evaluated not reviewed, f=0.009unknown var-GS07357-1100-36-ASM
BRAF A39Tinsufficiently evaluated not reviewed, f=0.010unknown var-GS18558-1100-36-ASM
BRAF A246Pinsufficiently evaluated pathogenicunknown

(3 web hits)

BRAF Q257Rinsufficiently evaluated pathogenicunknown

(28 web hits)

BRAF R462Iinsufficiently evaluated pathogenicunknown

(14 web hits)

BRAF I463Sinsufficiently evaluated pathogenicunknown

(13 web hits)

BRAF G464Einsufficiently evaluated pathogenicunknown

(31 web hits)

BRAF G466Vinsufficiently evaluated pathogenicunknown

(60 web hits)

BRAF G469Auncertain pathogenicunknown

BRAF (B-Raf proto-oncogene serine/threonine-protein kinase) G469A is a missense mutation within exon 11 of the BRAF gene. It is due to a mutation at nucleotide 1406 (GGA—>GCA) that lead to a an amino acid change from glycine to alanine ( G469A). BRAF mutations are present in numerous cancers, in about 15% of all tumors and at least one type of mutation is seen in about 90% of all malignant melanoma tumors. G469 is part of the tip of a glycine-rich loop that coordinates the active siteon BRAF which is involved with holding the protein in a stable confromation . A G—>A at residue position 469 interrupts the stable interaction of the activation segment and the inhibited (steady) state of the kinase. Thus, the disruption leads to new interactions that fold the kinase into a constitutively active state and results in unregulated cell activitiy. In general, the P loop and the activation loop are common mutational sites; such driver (activating) mutations identified in cancers are of high clinical utility because they can be targeted with drugs.

(97 web hits)

BRAF G469Einsufficiently evaluated pathogenicunknown

(51 web hits)

BRAF G469Rinsufficiently evaluated pathogenicunknown

(30 web hits)

BRAF L485Finsufficiently evaluated pathogenicunknown

(9 web hits)

BRAF K499Einsufficiently evaluated pathogenicunknown

(9 web hits)

BRAF E501Ginsufficiently evaluated pathogenicunknown

(12 web hits)

BRAF E501Kinsufficiently evaluated pathogenicunknown

(4 web hits)

BRAF E501Vinsufficiently evaluated not reviewedunknown
BRAF G534Rinsufficiently evaluated pathogenicunknown

(5 web hits)

BRAF N581Dinsufficiently evaluated pathogenicunknown

(1 web hit)

BRAF D594Ginsufficiently evaluated pathogenicunknown

(51 web hits)

BRAF L597Rinsufficiently evaluated pathogenicunknown

(42 web hits)

BRAF L597Vinsufficiently evaluated pathogenicunknown

(70 web hits)

BRAF V600Einsufficiently evaluated pathogenicunknown

(42000 web hits)

BRAF K601Einsufficiently evaluated pathogenicunknown

(160 web hits)

BRAF D638Einsufficiently evaluated pathogenicunknown

(1 web hit)

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Total results: 24

Gene search

"GENE" or "GENE A123C":

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