Varaico: Literature-Extracted Genetic Variants

Gene:GNAQ
Variant:p.Y101*
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GNAQ

NM_002072.5:p.Y101*

Associated Papers

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › A_Blood_as_normal

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

Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.

Koç Yekedüz M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

40542290 (PubMed )
Supplement: 10072_2025_8286_MOESM1_ESM.xlsx › T_M_HASTALAR

Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma.

Wong K et al.

Nature Communications, 2025

40389436 (PubMed )
Supplement: 41467_2025_59871_MOESM4_ESM.xlsx › Supp._Data_2a_-_BCA

Clear Cell Adenocarcinoma of the Urinary Tract Primary to the Renal Pelvis: A Multi-institutional Clinicopathologic and Molecular Study of Five Patients.

Indulkar S et al.

The American Journal of Surgical Pathology, 2025

Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.

López Rivera JJ et al.

Journal of Personalized Medicine, 2024

39338229 (PubMed )
Supplement: jpm-14-00975-s001.zip › SUPPLEMENTARY_DATA.xlsx › Table_S2

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R10492.xls › SNVIndel

Molecular Analysis of Biliary Tract Cancers with the Custom 3' RACE-Based NGS Panel.

Mitiushkina NV et al.

Diagnostics (basel, Switzerland), 2023

37891989 (PubMed )
Supplement: diagnostics-13-03168-s001.zip › diagnostics-2617903-supplementary.pdf

Mesonephric-like Adenocarcinoma of the Uterine Corpus: Genomic and Immunohistochemical Profiling with Comprehensive Clinicopathological Analysis of 17 Consecutive Cases from a Single Institution.

Koh HH et al.

Biomedicines, 2023

Whole-Exome Sequencing and cfDNA Analysis Uncover Genetic Determinants of Melanoma Therapy Response in a Real-World Setting.

Vanni I et al.

International Journal of Molecular Sciences, 2023

Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.

He P et al.

Frontiers in Oncology, 2023

36910641 (PubMed )
Supplement: DataSheet_1.xlsx › Table_S8

Plexiform fibrohistiocytic tumor: a clinicopathological and immunohistochemical study of 39 tumors, with evidence for a CSF1-producing "null cell" population.

Thangaiah JJ et al.

Virchows Archiv : an International Journal of Pathology, 2022

Evolutionary Trajectories of Primary and Metastatic Pancreatic Neuroendocrine Tumors Based on Genomic Variations.

Xu M et al.

Genes, 2022

36140756 (PubMed )
Supplement: genes-13-01588-s001.zip › Supplementary_Tables.pdf

Integrative Genomic Profiling Uncovers Therapeutic Targets of Acral Melanoma in Asian Populations.

Shi Q et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022

35294533 (PubMed )
Supplement: ccr-21-3344_supplementary_data_suppsd1.xlsx › Table_S6

Misaligned sequencing reads from the GNAQ-pseudogene locus may yield GNAQ artefact variants.

Lim JQ et al.

Nature Communications, 2022

Detection and Quantification of ctDNA for Longitudinal Monitoring of Treatment in Non-Small Cell Lung Cancer Patients Using a Universal Mutant Detection Assay by Denaturing Capillary Electrophoresis.

Benesova L et al.

Pathology Oncology Research : Por, 2022

Genomic characterization of intracranial teratomas using whole genome sequencing.

Zhang C et al.

Frontiers in Oncology, 2022

36457486 (PubMed )
Supplement: DataSheet_1.xlsx › Table_S2

Liver Transplantation for Unresectable Intrahepatic Cholangiocarcinoma: The Role of Sequencing Genetic Profiling.

Gruttadauria S et al.

Cancers, 2021

34885159 (PubMed )
Supplement: cancers-13-06049-s001.zip › cancers-1458237-supplementary.pdf

Mutation Profile Variability in the Primary Tumor and Multiple Pulmonary Metastases of Clear Cell Renal Cell Carcinoma. A Review of the Literature and Analysis of Four Metastatic Cases.

Prochazkova K et al.

Cancers, 2021

Genetic evolution to tyrosine kinase inhibitory therapy in patients with EGFR-mutated non-small-cell lung cancer.

Martinez-Marti A et al.

British Journal of Cancer, 2021

The temporal mutational and immune tumour microenvironment remodelling of HER2-negative primary breast cancers.

De Mattos-Arruda L et al.

Npj Breast Cancer, 2021

34099718 (PubMed )
Supplement: 41523_2021_282_MOESM1_ESM.xlsx › Suppl_Table_1

Whole-exome sequencing identifies somatic mutations and intratumor heterogeneity in inflammatory breast cancer.

Luo R et al.

Npj Breast Cancer, 2021

34075047 (PubMed )
Supplement: 41523_2021_278_MOESM2_ESM.xlsx › Supplementary_Data_1

Genomic and clinical characteristics of MET exon14 alterations in a large cohort of Chinese cancer patients revealed distinct features and a novel resistance mechanism for crizotinib.

Cheng T et al.

Journal of Cancer, 2021

33403024 (PubMed )
Supplement: jcav12p0644s1.pdf

EGFR-Mutated Squamous Cell Lung Cancer and Its Association With Outcomes.

Jin R et al.

Frontiers in Oncology, 2021

34195081 (PubMed )
Supplement: Table_2.xlsx › EGFR-Mutant_ADC

Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.

Zhang S et al.

Frontiers in Oncology, 2021

34221970 (PubMed )
Supplement: Table_3.xlsx › Supplementary_Table_S3

Paired tumor sequencing and germline testing in breast cancer management: An experience of a single academic center.

Elliott E et al.

Cancer Reports (hoboken, N.j.), 2020

32881420 (PubMed )
Supplement: CNR2-3-e1287-s001.pdf

Patient-derived ovarian cancer organoids capture the genomic profiles of primary tumours applicable for drug sensitivity and resistance testing.

Nanki Y et al.

Scientific Reports, 2020

32724113 (PubMed )
Supplement: 41598_2020_69488_MOESM2_ESM.xlsx › Sheet1

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_Table_S2.xlsx › Supplementary_Table_2

Centromeric cohesion failure invokes a conserved choreography of chromosomal mis-segregations in pancreatic neuroendocrine tumor.

Quevedo R et al.

Genome Medicine, 2020

32345369 (PubMed )
Supplement: 13073_2020_730_MOESM5_ESM.xlsx › SD._Exome_SNVs

Effect of GNAQ alteration on RANKL-induced osteoclastogenesis in human non-small-cell lung cancer.

Choi JY et al.

Bone & Joint Research, 2020

Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Durham BH et al.

Nature Medicine, 2019

31768065 (PubMed )
Supplement: NIHMS1541330-supplement-1.pdf

Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Peng M et al.

Journal of Medical Genetics, 2019

30981987 (PubMed )
Supplement: jmedgenet-2018-105825supp001.xlsx › Table_S3

Recurrent GNAQ mutation encoding T96S in natural killer/T cell lymphoma.

Li Z et al.

Nature Communications, 2019

Feasibility and utility of a panel testing for 114 cancer-associated genes in a clinical setting: A hospital-based study.

Sunami K et al.

Cancer Science, 2019

30742731 (PubMed )
Supplement: CAS-110-1480-s003.xlsx › Table_S3

Breast cancer metastasis to gynaecological organs: a clinico-pathological and molecular profiling study.

Kutasovic JR et al.

The Journal of Pathology. Clinical Research, 2019

30246500 (PubMed )
Supplement: CJP2-5-25-s002.xlsx › SupTable_11__Sequencing_data

Genetic Gastric Cancer Susceptibility in the International Clinical Cancer Genomics Community Research Network.

Slavin T et al.

Cancer Genetics, 2017

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_1_primary

Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders.

Margolskee E et al.

Oncotarget, 2016

27203213 (PubMed )
Supplement: oncotarget-07-37636-s002.xlsx › Table_S3

VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Lai Z et al.

Nucleic Acids Research, 2016

27060149 (PubMed )
Supplement: gkw227_Supplementary_Data.zip › nar-03544-met-k-2015-File003.xls › Suppl._Table_3

Colorectal Cancer Genetic Heterogeneity Delineated by Multi-Region Sequencing.

Lu YW et al.

Plos One, 2016

27023146 (PubMed )
Supplement: pone.0152673.s002.xlsx › L1

Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma.

De Mattos-Arruda L et al.

Nature Communications, 2015

26554728 (PubMed )
Supplement: ncomms9839-s3.xlsx › Sheet1

Exome sequencing in a family segregating for celiac disease.

Szperl AM et al.

Clinical Genetics, 2011

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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."