KRAS Q61R

c.182A>GNM_004985.512-25227342-T-C

RAS-MAPK gain of function transition Cancer hotspot Absent from gnomAD ClinVar: Conflicting classifications of pathogenicity AlphaMissense: likely pathogenic GSD

Reports 1 in GSD

ISSVA entity	Allele fraction	Sources
GSD	1% (one sig fig per source)	PMID32591603

Bars show the reported allele-fraction range on a 0 to 50 percent axis.

Position in KRAS 6 catalogued variants in this gene

Pathway and targeted therapy

Variant in the RAS-MAPK pathway. Repurposed drugs already used in the clinic for this pathway: trametinib and other MEK inhibitors.

Open and recent trials (3 in vascular / lymphatic anomalies for trametinib)

24VA021; VATCH Trametinib for Ras/MAPK Pathway VAs ACTIVE NOT RECRUITING NCT07549646 · PHASE2 · WHO ICTRP
Trametinib Treatment for Complicated Vascular Anomalies ACTIVE NOT RECRUITING NCT07072403 · PHASE1, PHASE2 · WHO ICTRP
A Study of Clinical Practice and Real-world Care of Patients Treated With mTOR, PI3K, and MEK Inhibitors for Extracranial Vascular Anomalies NOT YET RECRUITING NCT07767877 · WHO ICTRP

Primary sources 1

A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham-Stout disease.
Nozawa A, Ozeki M, Niihori T, Suzui N, Miyazaki T, Aoki Y. · J Hum Genet · 2020

Mentioned in 1,299 publications indexed by Europe PMC.