KRAS G12V

Reports 2 in GSD · CCLA

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

Position in KRAS 6 catalogued variants in this gene

Same region G12D, G13D

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)

• 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
• 24VA021; VATCH Trametinib for Ras/MAPK Pathway VAs ACTIVE NOT RECRUITING NCT07549646 · PHASE2 · WHO ICTRP

Primary sources 3

1. Genomic profiling informs diagnoses and treatment in vascular anomalies.

   Li D, Sheppard SE, March ME, Battig MR, Surrey LF, Srinivasan AS, Matsuoka LS, Tian L, Wang F, Seiler C, Dayneka J, Borst AJ, Matos MC, Paulissen SM, Krishnamurthy G, Nriagu B, Sikder T, Casey M, Williams L, Rangu S, O'Connor N, Thomas A, Pinto E, Hou C, Nguyen K, Pellegrino da Silva R, Chehimi SN, Kao C, Biroc L, Britt AD, Queenan M, Reid JR, Napoli JA, Low DM, Vatsky S, Treat J, Smith CL, Cahill AM, Snyder KM, Adams DM, Dori Y, Hakonarson H. · Nat Med · 2023
2. Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.

   Sheppard SE, March ME, Seiler C, Matsuoka LS, Kim SE, Kao C, Rubin AI, Battig MR, Khalek N, Schindewolf E, O'Connor N, Pinto E, Priestley JR, Sanders VR, Niazi R, Ganguly A, Hou C, Slater D, Frieden IJ, Huynh T, Shieh JT, Krantz ID, Guerrero JC, Surrey LF, Biko DM, Laje P, Castelo-Soccio L, Nakano TA, Snyder K, Smith CL, Li D, Dori Y, Hakonarson H. · JCI Insight · 2023
3. KRAS-driven model of Gorham-Stout disease effectively treated with trametinib.

   Homayun-Sepehr N, McCarter AL, Helaers R, Galant C, Boon LM, Brouillard P, Vikkula M, Dellinger MT. · JCI Insight · 2021

Mentioned in 6,697 publications indexed by Europe PMC.