NRAS Q61K

c.181C>ANM_002524.41-114713909-G-T

RAS-MAPK gain of function transversion Cancer hotspot ClinVar: Conflicting classifications of pathogenicity AlphaMissense: likely pathogenic KLA

Reports 1 in KLA

ISSVA entity	Allele fraction	Sources
KLA	not reported	PMID35202617

Position in NRAS 2 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

Cellular variant of kaposiform lymphangiomatosis: a report of three cases, expanding the morphologic and molecular genetic spectrum of this rare entity.
Allen-Rhoades W, Al-Ibraheemi A, Kohorst M, Tollefson M, Hull N, Polites S, Folpe AL. · Hum Pathol · 2022

Mentioned in 1,486 publications indexed by Europe PMC.