Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.R201C
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GNAS

NM_000516.7:p.R201C

Associated Papers

Clinical outcomes of genomically guided trametinib monotherapy across cancer types: results from the IMPRESS-Norway trial.

Slørdahl KS et al.

Acta Oncologica (stockholm, Sweden), 2026

41664938 (PubMed )
Supplement: AO-65-45086-s1.pdf

Adrenal mixed corticomedullary tumors: report of a case with molecular characterization and systematic review.

Pérez-Béliz E et al.

Virchows Archiv : an International Journal of Pathology, 2026

Molecular profiling in paediatric hepatocellular adenomas: phenotypic correlations and clinical significance.

Zhou Y et al.

Histopathology, 2026

Adrenal histologic and genetic characteristics of primary aldosteronism in late adulthood.

Blinder AR et al.

European Journal of Endocrinology, 2026

Multi-center multi-omics integration predicts individualized prognosis in medullary thyroid carcinoma.

Zhou Y et al.

Nature Communications, 2026

41535264 (PubMed )
Supplement: 41467_2025_67533_MOESM3_ESM.xlsx › Sheet1

De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalings.

Ikeda M et al.

Journal of Human Genetics, 2026

Gαs variant detection discerns skeletal cell types involved in fibrous dysplasia pathogenesis.

Michel Z et al.

Bone, 2026

Six-Color Multiplex Digital PCR Assays for Comprehensive Screening and Identification of Multiple Driver Mutations Associated with Pancreatic Carcinogenesis.

Maeda C et al.

Clinical Chemistry, 2026

Molecular Characterization of Pancreatic Simple Mucinous Cysts With GNAS Mutation: A Case Report and Literature Review.

Mizukami S et al.

Pancreas, 2026

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Phylogenetic analysis of paired breast carcinomas identifies genetic events associated with clonal recurrence and invasive progression.

Kader T et al.

The Journal of Pathology, 2026

41165701 (PubMed )
Supplement: PATH-268-1-s001.zip › path6461-sup-0001-SuppMatMethFiguresS1-S18TablesS1-S9 › path6461-sup-0003-TableS4.xlsx › Variants_recurrence_cases

Tumor-normal sequencing reveals novel TP53 germline and clinically actionable somatic mutations in Nigerian breast cancer patients.

Onyia AF et al.

Cancer Genetics, 2026

Delayed Diagnosis of McCune-Albright Syndrome in Adulthood Revealed by Spinal Fibrous Dysplasia: Report of 2 Cases.

Rouach V et al.

Jcem Case Reports, 2026

Clinical and Biochemical Progression in a Patient With Cortisol-Producing Adenoma.

Nanba K et al.

Jcem Case Reports, 2026

Burosumab treatment for FGF23-related hypophosphatemia in a two-year-old girl with McCune-Albright syndrome.

Saito T et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2026

McCune-Albright Syndrome as a Rare Cause of Fanconi Syndrome and Kidney Failure: A Case Report and Literature Review.

Qian Le Boh GV et al.

Kidney Medicine, 2026

Clinical characteristics associated with somatic GNAS mutations in acromegaly: a systematic review and institutional experience.

Dillon BR et al.

Frontiers in Endocrinology, 2026

Mutant GNAS drives a pyloric metaplasia with tumor suppressive glycans in intraductal papillary mucinous neoplasia.

Quoc-Huy Trinh V et al.

Cell Reports, 2025

Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.

Colin-Leitzinger C et al.

Human Genomics, 2025

41331781 (PubMed )
Supplement: 40246_2025_847_MOESM1_ESM.pdf

Clonal hematopoiesis in apparent treatment-resistant hypertension, insights from multiple medical centers and community-based cohorts.

Lv C et al.

Nature Aging, 2025

41286462 (PubMed )
Supplement: 43587_2025_1017_MOESM4_ESM.xlsx › Sheet1

Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.

Liu L et al.

Medcomm, 2025

41346570 (PubMed )
Supplement: MCO2-6-e70483-s002.xlsx › Tumour_cellularity

Molecular pathology of intraductal papillary mucinous neoplasms of the pancreas: current understanding and perspectives on malignant progression.

Makino Y et al.

Journal of Gastroenterology, 2025

Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.

Breen KE et al.

Npj Precision Oncology, 2025

41258420 (PubMed )
Supplement: 41698_2025_1155_MOESM2_ESM.xlsx › Table_S4-Somatic_Variants

Benign fibro-osseous lesions of the cranio-maxillofacial bones: an updated review with special emphasis on molecular pathogenesis.

Pandiar D et al.

Journal of Bone and Mineral Metabolism, 2025

Integrative analysis of genomic and transcriptomic data informs precancer progression in the pancreas.

Noller K et al.

Biorxiv : the Preprint Server for Biology, 2025

Effects of Krüppel-like factor 4 mutation on the clinicopathological characteristics and its related protein expressions in intraductal papillary mucinous neoplasm of the pancreas.

Nagamine Y et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2025

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc4.xlsx › Table_S10B

Imprinting and skeletal disorders: lessons from pseudohypoparathyroidism and related disorders.

Iwasaki Y et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025

Segmental macular hyperpigmentation: new genes, new clinical implications.

Kinsler VA et al.

The British Journal of Dermatology, 2025

The Genomic Topography of Appendiceal Cancers: Our Current Understanding, Clinical Perspectives, and Future Directions.

Gironda DJ et al.

Cancers, 2025

Genomic alterations in pancreatic cystic neoplasms: from molecular characterization to precision clinical management.

Yang S et al.

International Journal of Surgery (london, England), 2025

Highly multiplexed digital PCR assay for simultaneous quantification of variant allele frequencies and copy number alterations of KRAS and GNAS in pancreatic cancer precursors.

Tanaka J et al.

Molecular Oncology, 2025

Mucinous Cystadenocarcinomas of the Breast Exhibit Heterogeneous Genomic Profile as Triple Negative Breast Cancer, Harbor Alterations in PIK3CA, PTEN, AKT1, and GNAS Genes, and May Not Be Indolent.

Tondi Resta I et al.

International Journal of Surgical Pathology, 2025

Neutralization of Receptor activator of nuclear factor-κB ligand reduces fibrosis and promotes osteoblast differentiation in a mouse model of fibrous dysplasia driven by somatic expression of GnasR201H.

Ormsby RT et al.

Jbmr Plus, 2025

Single-cell analysis of human fibrous dysplasia bone reveals a fibrotic transcriptome and GNAS variants in endothelial, perivascular, and stromal cells.

Wentworth KL et al.

American Journal of Human Genetics, 2025

Dietary and Circulating Vitamins, Polymorphisms of Vitamin Metabolism Genes, and the Risk of Gastrointestinal Cancers: A Systematic Review and Meta-Analysis.

Wang XL et al.

Clinical and Translational Gastroenterology, 2025

40758155 (PubMed )
Supplement: ct9-16-e00899-s001.pdf

Development and Performance Validation of a Comprehensive Liquid Biopsy Genotyping Panel for Pan-cancer Analysis.

Lim S et al.

Annals of Laboratory Medicine, 2025

40888113 (PubMed )
Supplement: alm-46-2-210-supple.pdf

Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.

Katanaev VL et al.

Embo Molecular Medicine, 2025

Mutated G proteins as drug targets.

Noorman van der Dussen K et al.

Trends in Pharmacological Sciences, 2025

Burosumab treatment for fibroblast growth factor-23-associated hypophosphatemia in an adult patient with severe fibrous dysplasia in McCune-Albright syndrome: case report and review of the literature.

Stelmachowska-Banaś M et al.

Jbmr Plus, 2025

Genotype-Phenotype Correlation in Fibrous Dysplasia/McCune-Albright Syndrome Patients With Craniofacial Lesions.

Xue J et al.

Oral Diseases, 2025

Unraveling the link between GNAS R201 mutation and colorectal cancer.

Behmanesh MA et al.

Scientific Reports, 2025

Clinical utility of liquid biopsy next-generation sequencing for advanced non-small cell lung cancer in the Netherlands.

de Bitter TJJ et al.

Scientific Reports, 2025

40830613 (PubMed )
Supplement: 41598_2025_13667_MOESM2_ESM.xlsx › Supplementary_Table_3

Genetic evaluation of pediatric pituitary adenomas and USP8-related genotype-phenotype correlations in Cushing's disease.

Zainab R et al.

Pituitary, 2025

MutationAssessor in cBioPortal.

Su Y et al.

Biorxiv : the Preprint Server for Biology, 2025

40832239 (PubMed )
Supplement: media-1.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."