← Lymphatic Malformation Variant Atlas

KRAS G13D

c.38G>A NM_004985.5 RAS-MAPK transition, gain of function

Cancer hotspot Recurrent missense variant. COSMIC COSV55497357, COSV55497388, COSV55522580
Population · gnomAD 2.0e-5 gnomAD v4
ClinVar Pathogenic VCV000012580
Protein region P-loop, phosphate binding Residue 13 of KRAS. UniProt P01116
AlphaMissense likely pathogenic Pathogenicity score 1.00. Computational prediction, not clinical evidence.

Position in KRAS 6 catalogued

Reported in CCLA

ISSVA subsetAllele fractionSources
CCLA 10.3-38.8%

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

Pathway and targeted therapy

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

Open and recent trials (8 in vascular / lymphatic anomalies for trametinib)

Primary sources (1)

  1. 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

Mentioned in 3,280 publications indexed by Europe PMC.

Cross-references