← Lymphatic Malformation Variant Atlas

HRAS M72_R73insHSAMRDQYM

c.191_217dup NM_005343.4 RAS-MAPK indel, gain of function

Cancer hotspot Not a hotspot inframe insertion. Genome Nexus / cancerhotspots.org
Population · gnomAD gnomAD v4
ClinVar Not in ClinVar no exact-match submission
Protein region switch II Residue 72 of HRAS. UniProt P01112

Position in HRAS 3 catalogued

1189 aaA59_Q61delinsGGSILE63_S65delinsDIPPM72_R73insHSAMRDQYM

Reported in GLA · CCLA

ISSVA subsetAllele fractionSources
GLA 0.51-0.63%
CCLA 0.51-0.63%

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. 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

Mentioned in 1 publications indexed by Europe PMC.

Cross-references