Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.Q227R
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GNAS

NM_000516.7:p.Q227R

Associated Papers

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

Dillon BR et al.

Frontiers in Endocrinology, 2026

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

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

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

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc5.xlsx › Table_S12B

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

Xue J et al.

Oral Diseases, 2025

Prognostic significance of circulating tumor DNA alterations in advanced renal cell carcinoma from SCRUM-Japan MONSTAR-SCREEN: a nationwide genomic profiling project.

Kato T et al.

British Journal of Cancer, 2025

40325148 (PubMed )
Supplement: 41416_2025_2985_MOESM2_ESM.xlsx › Supplementary_Table_S2

Clonal Hematopoiesis of Indeterminate Potential Is Associated With Incident Abdominal Aortic Aneurysm.

Tan Y et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2025

40336477 (PubMed )
Supplement: atvb-2024-322630-s01.pdf

Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.

Hiitola E et al.

Science Advances, 2025

40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S2

Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.

Colin-Leitzinger C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40166537 (PubMed )
Supplement: media-1.pdf

Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.

Wen S et al.

Nature Genetics, 2025

39948438 (PubMed )
Supplement: 41588_2025_2085_MOESM4_ESM.xlsx › ST_4

Identification of Novel and Rare GNAS Mutations in Craniofacial Fibrous Dysplasia.

Xue J et al.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2025

Cancer risk assessment of premalignant breast tissues from patients with BRCA mutations by genome profiling.

Hirose T et al.

Npj Breast Cancer, 2024

39366967 (PubMed )
Supplement: 41523_2024_693_MOESM3_ESM.xlsx › Supplementary_Data_3

Identification of Clonal Hematopoiesis Driver Mutations through In Silico Saturation Mutagenesis.

Demajo S et al.

Cancer Discovery, 2024

38722595 (PubMed )
Supplement: cd-23-1416_supplementary_table_s1_suppst1.xlsx › Sheet1

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.

Shiota M et al.

Bjc Reports, 2024

39516321 (PubMed )
Supplement: 44276_2024_49_MOESM4_ESM.xlsx › supplementary_table_2

Genetic characterization of intramuscular myxomas.

Hatchett WJ et al.

Pathology Oncology Research : Por, 2024

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

A Rare Skeletal Disorder, Fibrous Dysplasia: A Review of Its Pathogenesis and Therapeutic Prospects.

Kim HY et al.

International Journal of Molecular Sciences, 2023

Rare variant associations with plasma protein levels in the UK Biobank.

Dhindsa RS et al.

Nature, 2023

37794183 (PubMed )
Supplement: 41586_2023_6547_MOESM4_ESM.zip › 2022-09-14560C-s4 › 2022-09-14560C-Supp_table_20_-_CH_qualifying_variant_list.xlsx › CH_qualifying_variants

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2a.Studied_gene

Pituitary tumours: molecular and genetic aspects.

De Sousa SMC et al.

The Journal of Endocrinology, 2023

McCune-Albright Syndrome: A Case Report and Review of Literature.

Nicolaides NC et al.

International Journal of Molecular Sciences, 2023

Major Genetic Motifs in Pituitary Adenomas: A Practical Literature Update.

Agrawal N et al.

World Neurosurgery, 2023

Brain and eye involvement in McCune-Albright Syndrome: clinical and translational insights.

Mascioli I et al.

Frontiers in Endocrinology, 2023

Proteogenomic landscape and clinical characterization of GH-producing pituitary adenomas/somatotroph pituitary neuroendocrine tumors.

Yamato A et al.

Communications Biology, 2022

CC Genotype of GNAS c.393C>T (rs7121) Polymorphism Has a Protective Effect against Development of BK Viremia and BKV-Associated Nephropathy after Renal Transplant

Peitz T et al.

Pathogens (basel, Switzerland), 2022

Cancer-driving mutations are enriched in genic regions intolerant to germline variation.

Vitsios D et al.

Science Advances, 2022

36026442 (PubMed )
Supplement: sciadv.abo6371_tables_s1_to_s13.zip › sciadv.abo6371_tables_s1_to_s13.xlsx › S1

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

Genotype-Phenotype Correlation in Fibrous Dysplasia/McCune-Albright Syndrome.

Zhadina M et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Bick AG et al.

Nature, 2020

33057201 (PubMed )
Supplement: NIHMS1609346-supplement-1609346_SuppTables.xlsx › S2

Identification of novel GNAS mutations in intramuscular myxoma using next-generation sequencing with single-molecule tagged molecular inversion probes.

Bekers EM et al.

Diagnostic Pathology, 2019

Mutational analysis of high-grade spindle cell sarcoma of the femur in Mazabraud's syndrome.

Calleja M et al.

Skeletal Radiology, 2019

Cancer gene profiling in non-small cell lung cancers reveals activating mutations in JAK2 and JAK3 with therapeutic implications.

Li SD et al.

Genome Medicine, 2017

29082853 (PubMed )
Supplement: 13073_2017_478_MOESM1_ESM.xlsx › Table_S2

Digital next-generation sequencing identifies low-abundance mutations in pancreatic juice samples collected from the duodenum of patients with pancreatic cancer and intraductal papillary mucinous neoplasms.

Yu J et al.

Gut, 2017

Karyotyping and analysis of GNAS locus in intramuscular myxomas.

Panagopoulos I et al.

Oncotarget, 2017

GNAS Mutations in Fibrous Dysplasia: A Comparative Study of Standard Sequencing and Locked Nucleic Acid PCR Sequencing on Decalcified and Nondecalcified Formalin-fixed Paraffin-embedded Tissues.

Jour G et al.

Applied Immunohistochemistry & Molecular Morphology : Aimm, 2016

Clinicopathological implications of GNAS in Ewing sarcoma.

Noh BJ et al.

Oncology Letters, 2016

The Role of gsp Mutations on the Development of Adrenocortical Tumors and Adrenal Hyperplasia.

Villares Fragoso MC et al.

Frontiers in Endocrinology, 2016

Familial adenomatous polyposis-associated and sporadic pyloric gland adenomas of the upper gastrointestinal tract share common genetic features.

Hashimoto T et al.

Histopathology, 2015

Activating GNAS and KRAS mutations in gastric foveolar metaplasia, gastric heterotopia, and adenocarcinoma of the duodenum.

Matsubara A et al.

British Journal of Cancer, 2015

Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics.

Presneau N et al.

The Journal of Pathology. Clinical Research, 2015

27499898 (PubMed )
Supplement: CJP2-1-113-s004.xlsx › Sheet1

Molecular genetic advances in pituitary tumor development.

Yates CJ et al.

Expert Review of Endocrinology & Metabolism, 2015

Comparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions.

Brannon AR et al.

Genome Biology, 2014

25164765 (PubMed )
Supplement: 13059_2014_454_MOESM1_ESM.xlsx › Sheet1

Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics.

Salpea P et al.

Molecular and Cellular Endocrinology, 2014

The emerging mutational landscape of G proteins and G-protein-coupled receptors in cancer.

O'Hayre M et al.

Nature Reviews. Cancer, 2013

Granulation pattern, but not GSP or GHR mutation, is associated with clinical characteristics in somatostatin-naive patients with somatotroph adenomas.

Larkin S et al.

European Journal of Endocrinology, 2013

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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."