← Lymphatic Malformation Variant Atlas

KRAS Q70_Y71ins15

c.167_211dup NM_004985.5 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 70 of KRAS. UniProt P01116

Position in KRAS 6 catalogued

1189 aaG12DG12VG13DQ61RQ70_Y71ins15A146T

Reported in GLA

ISSVA subsetAllele fractionSources
GLA 1.22%

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