Varaico: Literature-Extracted Genetic Variants

Gene:RRAS2
Variant:p.Q72L
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RRAS2

NM_012250.6:p.Q72L

Associated Papers

RRAS and RRAS2 mutations are recurrent oncogenic drivers in lung cancer and are sensitive to the pan-RAS inhibitor RMC-6236.

Pfeil AJ et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2026

RRAS and RRAS2 mutations are recurrent oncogenic drivers in lung cancer and are sensitive to the pan-RAS inhibitor RMC-6236.

Pfeil AJ et al.

Biorxiv : the Preprint Server for Biology, 2025

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

Science (new York, N.y.), 2025

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc2.xlsx › All

Structural insights into isoform-specific RAS-PI3Kα interactions and the role of RAS in PI3Kα activation.

Czyzyk D et al.

Nature Communications, 2025

The theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).

Zhang L et al.

Elife, 2024

39688960 (PubMed )
Supplement: elife-99340-supp1.xlsx › CDN.Missense.gnomad

Patient-derived rhabdomyosarcoma cells recapitulate the genetic and transcriptomic landscapes of primary tumors.

Hu Y et al.

Iscience, 2024

39319271 (PubMed )
Supplement: mmc5.xlsx › Table_S4

Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.

Küçükosmanoglu A et al.

Molecular Oncology, 2024

38757376 (PubMed )
Supplement: MOL2-18-2407-s001.xlsx › 1B_Cases_composite_mutations

LNK/SH2B3 as a novel driver in juvenile myelomonocytic leukemia.

Wintering A et al.

Haematologica, 2024

38152053 (PubMed )
Supplement: 2023_283776-WINTERING_SUPPL.pdf

Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism.

Chen J et al.

Journal of Medical Genetics, 2024

38621993 (PubMed )
Supplement: jmg-2024-109896supp007.pdf

Unmutated RRAS2 emerges as a key oncogene in post-partum-associated triple negative breast cancer.

Cifuentes C et al.

Molecular Cancer, 2024

RASopathies are the most common set of monogenic syndromes identified by exome sequencing for nonimmune hydrops fetalis: A systematic review and meta-analysis.

Makhamreh MM et al.

American Journal of Medical Genetics. Part A, 2024

Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.

Ramamoorthy S et al.

British Journal of Haematology, 2024

The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma.

Zeng L et al.

Molecular Genetics & Genomic Medicine, 2024

Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome.

Shao Q et al.

Frontiers in Genetics, 2024

Mice Overexpressing Wild-Type RRAS2 Are a Novel Model for Preclinical Testing of Anti-Chronic Lymphocytic Leukemia Therapies.

Hortal AM et al.

Cancers, 2023

Characterization of Three Somatic Mutations in the 3'UTR of RRAS2 and Their Inverse Correlation with Lymphocytosis in Chronic Lymphocytic Leukemia.

Lacuna M et al.

Cells, 2023

DeepAlloDriver: a deep learning-based strategy to predict cancer driver mutations.

Song Q et al.

Nucleic Acids Research, 2023

An Optimized Single Nucleotide Polymorphism-Based Detection Method Suggests That Allelic Variants in the 3' Untranslated Region of RRAS2 Correlate with Treatment Response in Chronic Lymphocytic Leukemia Patients.

Hortal A et al.

Cancers, 2023

Characterization of mutant versions of the R-RAS2/TC21 GTPase found in tumors.

Clavaín L et al.

Oncogene, 2023

The molecular genetics of RASopathies: An update on novel disease genes and new disorders.

Tartaglia M et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022

Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway.

Carli D et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022

A hotspot mutation targeting the R-RAS2 GTPase acts as a potent oncogenic driver in a wide spectrum of tumors.

Fernández-Pisonero I et al.

Cell Reports, 2022

Genomic and Epigenomic Landscape of Juvenile Myelomonocytic Leukemia.

Fiñana C et al.

Cancers, 2022

Overexpression of wild type RRAS2, without oncogenic mutations, drives chronic lymphocytic leukemia.

Hortal AM et al.

Molecular Cancer, 2022

The RRAS2 pathogenic variant p.Q72L produces severe Noonan syndrome with hydrocephalus: A case report.

Weinstock NI et al.

American Journal of Medical Genetics. Part A, 2022

Mesonephric and mesonephric-like carcinomas of the female genital tract: molecular characterization including cases with mixed histology and matched metastases.

da Silva EM et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021

The landscape of driver mutations in cutaneous squamous cell carcinoma.

Chang D et al.

Npj Genomic Medicine, 2021

Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations.

Tripathi S et al.

Bioinformatics (oxford, England), 2021

33226070 (PubMed )
Supplement: btaa972_supplementary_data.zip › RAS_Manuscript_RMarkdown.tar.gz › RAS_Manuscript1.Revised › RAS_Variants_Scores.xlsx › Sheet1

Swimming toward solutions: Using fish and frogs as models for understanding RASopathies.

Patterson VL et al.

Birth Defects Research, 2020

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Drivers-not-HR

Molecular assessment of pretransplant chemotherapy in the treatment of juvenile myelomonocytic leukemia.

Hecht A et al.

Pediatric Blood & Cancer, 2019

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.

Capri Y et al.

American Journal of Human Genetics, 2019

Germline-Activating RRAS2 Mutations Cause Noonan Syndrome.

Niihori T et al.

American Journal of Human Genetics, 2019

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

Disease burden and conditioning regimens in ASCT1221, a randomized phase II trial in children with juvenile myelomonocytic leukemia: A Children's Oncology Group study.

Dvorak CC et al.

Pediatric Blood & Cancer, 2018

Integrative analysis of genomic alterations in triple-negative breast cancer in association with homologous recombination deficiency.

Kawazu M et al.

Plos Genetics, 2017

Germline RRAS2 mutations are not associated with Noonan syndrome.

Ceremsak JJ et al.

Journal of Medical Genetics, 2016

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

Chang MT et al.

Nature Biotechnology, 2016

The Molecular Taxonomy of Primary Prostate Cancer.

Unknown Author

Cell, 2015

The genomic landscape of juvenile myelomonocytic leukemia.

Stieglitz E et al.

Nature Genetics, 2015

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