Varaico: Literature-Extracted Genetic Variants

Gene:HRAS
Variant:p.S17N
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HRAS

NM_005343.4:p.S17N

Associated Papers

Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.

Pinheiro M et al.

Nature Communications, 2024

39266536 (PubMed )
Supplement: 41467_2024_51713_MOESM5_ESM.xlsx › Data_2

RAS-independent ERK activation by constitutively active KSR3 in non-chordate metazoa.

Chessel A et al.

Nature Communications, 2023

KRAS Mutations Are Associated with Shortened Survival in Patients with Epithelioid Malignant Pleural Mesothelioma.

Vannucchi M et al.

Cancers, 2023

Dynamic regulation of RAS and RAS signaling.

Kolch W et al.

The Biochemical Journal, 2023

Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser affects RIN1-mediated integrin trafficking in immortalized epidermal keratinocytes.

Nauth T et al.

Human Molecular Genetics, 2023

Impaired Proteolysis of Noncanonical RAS Proteins Drives Clonal Hematopoietic Transformation.

Chen S et al.

Cancer Discovery, 2022

A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.

Lindsey-Temple S et al.

European Journal of Human Genetics : Ejhg, 2022

A Proteomic Approach Identifies Isoform-Specific and Nucleotide-Dependent RAS Interactions.

Miller SP et al.

Molecular & Cellular Proteomics : Mcp, 2022

Delineating the RAS Conformational Landscape.

Parker MI et al.

Cancer Research, 2022

35536216 (PubMed )
Supplement: can-22-0804_supplementary_datasets_s1-s4_suppsds1-sds4.xlsx › Supplementary_Dataset_S1

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

Mutation patterns in recurrent and/or metastatic oropharyngeal squamous cell carcinomas in relation to human papillomavirus status.

Reder H et al.

Cancer Medicine, 2021

33527763 (PubMed )
Supplement: CAM4-10-1347-s006.pdf

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects.

Gripp KW et al.

European Journal of Human Genetics : Ejhg, 2020

RAS and RHO family GTPase mutations in cancer: twin sons of different mothers?

Hodge RG et al.

Critical Reviews in Biochemistry and Molecular Biology, 2020

Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics.

Gripp KW et al.

Clinical Genetics, 2017

Circulating-free DNA Mutation Associated with Response of Targeted Therapy in Human Epidermal Growth Factor Receptor 2-positive Metastatic Breast Cancer.

Ye Q et al.

Chinese Medical Journal, 2017

Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1).

Fang Z et al.

The Journal of Biological Chemistry, 2016

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

Gripp KW et al.

American Journal of Medical Genetics. Part A, 2015

H-Ras mediates the inhibitory effect of epidermal growth factor on the epithelial Na+ channel.

Lee IH et al.

Plos One, 2015

Amino acids activate mammalian target of rapamycin (mTOR) complex 1 without changing Rag GTPase guanyl nucleotide charging.

Oshiro N et al.

The Journal of Biological Chemistry, 2014

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

Shoc2 is targeted to late endosomes and required for Erk1/2 activation in EGF-stimulated cells.

Galperin E et al.

Plos One, 2012

Rasd1 interacts with Ear2 (Nr2f6) to regulate renin transcription.

Tan JJ et al.

Bmc Molecular Biology, 2011

Mutations in the c-Kit gene disrupt mitogen-activated protein kinase signaling during tumor development in adenoid cystic carcinoma of the salivary glands.

Tetsu O et al.

Neoplasia (new York, N.y.), 2010

Activation of Ras-dependent Elk-1 activity by MLL-AF4 family fusion oncoproteins.

Ng MH et al.

Experimental Hematology, 2010

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

A cross-talk between oncogenic Ras and tumor suppressor PTEN through FAK Tyr861 phosphorylation in NIH/3T3 mouse embryonic fibroblasts.

Bahk YY et al.

Biochemical and Biophysical Research Communications, 2008

Aberrant iNOS signaling is under genetic control in rodent liver cancer and potentially prognostic for the human disease.

Calvisi DF et al.

Carcinogenesis, 2008

The tumour-suppressor protein ASPP1 is nuclear in human germ cells and can modulate ratios of CD44 exon V5 spliced isoforms in vivo.

Thornton JK et al.

Oncogene, 2006

PARG1, a protein-tyrosine phosphatase-associated RhoGAP, as a putative Rap2 effector.

Myagmar BE et al.

Biochemical and Biophysical Research Communications, 2005

Expression profiling of the influence of RAS mutants on the TGFB1-induced phenotype of the pancreatic cancer cell line PANC-1.

Fensterer H et al.

Genes, Chromosomes & Cancer, 2004

The Saccharomyces cerevisiae Rheb G-protein is involved in regulating canavanine resistance and arginine uptake.

Urano J et al.

The Journal of Biological Chemistry, 2000

Negative regulation of Raf activity by binding of 14-3-3 to the amino terminus of Raf in vivo.

Rommel C et al.

Mechanisms of Development, 1997

An effector-like function of Ras GTPase-activating protein predominates in cardiac muscle cells.

Abdellatif M et al.

The Journal of Biological Chemistry, 1997

Inhibition of Ras/Raf interaction by anti-oncogenic mutants of neurofibromin, the neurofibromatosis type 1 (NF1) gene product, in cell-free systems.

Mori S et al.

The Journal of Biological Chemistry, 1995

Mutational analysis of the structure and function of GTP-binding proteins.

Masters SB et al.

Advances in Enzyme Regulation, 1990

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