Varaico: Literature-Extracted Genetic Variants

Gene:HRAS
Variant:p.E49V
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HRAS

NM_005343.4:p.E49V

Associated Papers

Somatic Mutations of Thymic Epithelial Tumors Identified in the Prospective THYMOGENE Trial.

Pardini E et al.

Thoracic Cancer, 2025

Functional Analysis of Rare RAS Variants of Unknown Significance.

Park S et al.

Cancer Research Communications, 2025

40970755 (PubMed )
Supplement: crc-25-0188_supplementary_table_s4_suppst4.xlsx › Supplementary_Table_S4

Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer.

Vlachavas EI et al.

Molecular Oncology, 2025

Tumor-derived RHOA mutants interact with effectors in the GDP-bound state.

Lin Y et al.

Nature Communications, 2024

KRAS Mutation Subtypes and Their Association with Other Driver Mutations in Oncogenic Pathways.

Mondal K et al.

Cells, 2024

Clinical features associated with NeoRAS wild-type metastatic colorectal cancer A SCRUM-Japan GOZILA substudy.

Osumi H et al.

Nature Communications, 2024

Clinical-Molecular characteristics and Post-Translational modifications of colorectal cancer in north China: Implications for future targeted therapies.

Chi Y et al.

Gene, 2024

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_33

KRAS, NRAS, BRAF, and PIK3CA mutation rates, clinicopathological association, and their prognostic value in Iranian colorectal cancer patients.

Mirzapoor Abbasabadi Z et al.

Journal of Clinical Laboratory Analysis, 2023

Beyond structural bioinformatics for genomics with dynamics characterization of an expanded KRAS mutational landscape.

Ratnasinghe BD et al.

Computational and Structural Biotechnology Journal, 2023

Delineating the RAS Conformational Landscape.

Parker MI et al.

Cancer Research, 2022

Comparative analysis of web-based programs for single amino acid substitutions in proteins.

Choudhury A et al.

Plos One, 2022

35507592 (PubMed )
Supplement: pone.0267084.s001.xlsx › HRAS

Mutations matter: An observational study of the prognostic and predictive value of KRAS mutations in metastatic colorectal cancer.

Lavacchi D et al.

Frontiers in Oncology, 2022

Unusual phylogenetic tree and circulating actionable ESR1 mutations in an aggressive luminal/HER2-low breast cancer: Case report.

Allegretti M et al.

Frontiers in Oncology, 2022

Cross-reactivity of NRASQ61R antibody in a subset of Spitz nevi with 11p gain: a potential confounding factor in the era of pathway-based diagnostic approach.

Parra O et al.

Human Pathology, 2021

Complete Screening of Exons 2, 3, and 4 of KRAS and NRAS Genes Reveals a Higher Number of Clinically Relevant Mutations than Food and Drug Administration Quantitative Polymerase Chain Reaction-Based Commercial Kits.

Sánchez-Ibarra HE et al.

Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 2020

Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Li Z et al.

Clinical and Translational Medicine, 2020

33252848 (PubMed )
Supplement: CTM2-10-e222-s003.xlsx › Sheet1

Tipifarnib as a Precision Therapy for HRAS-Mutant Head and Neck Squamous Cell Carcinomas.

Gilardi M et al.

Molecular Cancer Therapeutics, 2020

Biology, pathology, and therapeutic targeting of RAS.

Rhett JM et al.

Advances in Cancer Research, 2020

Costello syndrome: Clinical phenotype, genotype, and management guidelines.

Gripp KW et al.

American Journal of Medical Genetics. Part A, 2019

A Highly Verified Assay for KRAS Mutation Detection in Tissue and Plasma of Lung, Colorectal, and Pancreatic Cancer.

Li J et al.

Archives of Pathology & Laboratory Medicine, 2019

Mutation status and prognostic values of KRAS, NRAS, BRAF and PIK3CA in 353 Chinese colorectal cancer patients.

Guo F et al.

Scientific Reports, 2018

Functional characterization of somatic mutations in cancer using network-based inference of protein activity.

Alvarez MJ et al.

Nature Genetics, 2016

27322546 (PubMed )
Supplement: NIHMS789775-supplement-1.pdf

Prognostic role of KRAS mutations in Sardinian patients with colorectal carcinoma.

Palomba G et al.

Oncology Letters, 2016

Deep sequencing of cancer-related genes revealed GNAS mutations to be associated with intraductal papillary mucinous neoplasms and its main pancreatic duct dilation.

Takano S et al.

Plos One, 2014

Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome.

Wey M et al.

Biochemistry, 2013

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.

Lorenz S et al.

Human Molecular Genetics, 2013

A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.

Gripp KW et al.

American Journal of Medical Genetics. Part A, 2012

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.

Niihori T et al.

Journal of Human Genetics, 2011

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.

Lin AE et al.

American Journal of Medical Genetics. Part A, 2011

Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.

Gremer L et al.

Human Molecular Genetics, 2010

Activating K-Ras mutations outwith 'hotspot' codons in sporadic colorectal tumours - implications for personalised cancer medicine.

Smith G et al.

British Journal of Cancer, 2010

Structural assessment of the effects of amino acid substitutions on protein stability and protein protein interaction.

Teng S et al.

International Journal of Computational Biology and Drug Design, 2010

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.

Tidyman WE et al.

Current Opinion in Genetics & Development, 2009

Clinical and molecular aspects of RAS related disorders.

Denayer E et al.

Journal of Medical Genetics, 2008

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

Aoki Y et al.

Human Mutation, 2008

Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?

Gripp KW et al.

American Journal of Medical Genetics. Part A, 2008

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Schulz AL et al.

Clinical Genetics, 2008

What's new in the neuro-cardio-facial-cutaneous syndromes?

Denayer E et al.

European Journal of Pediatrics, 2007

Hyperactive Ras in developmental disorders and cancer.

Schubbert S et al.

Nature Reviews. Cancer, 2007

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.

Gelb BD et al.

Human Molecular Genetics, 2006

Multi-Center Evaluation of the Fully Automated PCR-Based Idylla™ KRAS Mutation Assay for Rapid KRAS Mutation Status Determination on Formalin-Fixed Paraffin-Embedded Tissue of Human Colorectal Cancer.

Solassol J et al.

Plos One, 0

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