Varaico: Literature-Extracted Genetic Variants

Gene:GNA11
Variant:p.Q209L
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GNA11

NM_002067.5:p.Q209L

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

Clinical Molecular Pathology and Treatment Developments in Advanced Uveal Melanoma: State of the Art.

Dore S et al.

Oncology Research, 2026

Early genetic evolution of driver mutations in uveal melanoma.

Dollar JJ et al.

Nature Communications, 2025

Nucleotide Substitution Biases in Related Cancer Driver Genes.

Khadre A et al.

International Journal of Molecular Sciences, 2025

Double nonallelic somatic activating oncogene variants in a series of mosaic vascular anomalies.

Kuentz P et al.

The British Journal of Dermatology, 2025

Clinical Molecular Testing for Clonal Relatedness of Second Melanoma Tumors: A Real-World Appraisal.

Plotzke JM et al.

Archives of Pathology & Laboratory Medicine, 2025

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

Iris and anterior chamber angle melanoma masquerading as benign melanocytic lesion.

Ton MN et al.

American Journal of Ophthalmology Case Reports, 2025

Mutated G proteins as drug targets.

Noorman van der Dussen K et al.

Trends in Pharmacological Sciences, 2025

Molecular determinants of survival in metastatic uveal melanoma: The impact of SF3B1 mutations.

Del Carpio LP et al.

European Journal of Cancer (oxford, England : 1990), 2025

MutationAssessor in cBioPortal.

Su Y et al.

Biorxiv : the Preprint Server for Biology, 2025

40832239 (PubMed )
Supplement: media-1.pdf

Comprehensive Genomic Profiles of Melanoma in Veterans Compared to Reference Databases.

Mettman D et al.

Federal Practitioner : for the Health Care Professionals of the Va, Dod, and Phs, 2025

Early Genetic Evolution of Driver Mutations in Uveal Melanoma.

Dollar JJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc2.xlsx › All

The Natural History of Congenital Hepatic Hemangiomas.

Ostertag-Hill CA et al.

The Journal of Pediatrics, 2025

Co-occurrence of EIF1AX, SF3B1, or BAP1 variants in uveal melanomas: A case series and review.

Skrehot HC et al.

American Journal of Ophthalmology Case Reports, 2025

Shared neoantigens' atlas for off-the-shelf cancer vaccine development.

Mauriello A et al.

Journal of Translational Medicine, 2025

Genotyping as Part of Routine Clinical Care-The Outcomes for a Large Paediatric Vascular Anomaly Cohort.

O'Sullivan S et al.

American Journal of Medical Genetics. Part A, 2025

Phase II Study of Niraparib in Patients With Advanced Melanoma With Homologous Recombination Pathway Gene Mutations.

Kim KB et al.

Jco Precision Oncology, 2025

Short Report: The Variants in CHEK2 in Metastatic Uveal Melanoma.

Terai M et al.

Journal of Clinical Medicine, 2025

Digital PCR-based genetic profiling from vitreous fluid as liquid biopsy for primary uveal melanoma: a proof-of-concept study.

Nell RJ et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2025

Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.

Vasquez YA et al.

Npj Precision Oncology, 2025

40119139 (PubMed )
Supplement: 41698_2025_852_MOESM11_ESM.xlsx › Supplementary_Data_9

Identification of diagnostic and prognostic genetic alterations in uveal melanoma using RNA sequencing.

Nell RJ et al.

Scientific Reports, 2025

40059100 (PubMed )
Supplement: 41598_2025_90122_MOESM2_ESM.xlsx › Supplementary_Table_2

Multicenter In-House Evaluation of an Amplicon-Based Next-Generation Sequencing Panel for Comprehensive Molecular Profiling.

Jantus-Lewintre E et al.

Molecular Diagnosis & Therapy, 2025

39798063 (PubMed )
Supplement: 40291_2024_766_MOESM1_ESM.pdf

An activating calcium-sensing receptor variant with biased signaling reveals a critical residue for Gα11 coupling.

Benson MR et al.

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

Clinico-genomic features predict distinct metastatic phenotypes in cutaneous melanoma.

Aprati TJ et al.

Biorxiv : the Preprint Server for Biology, 2025

Co-isolation of human donor eye cells and development of oncogene-mutated melanocytes to study uveal melanoma.

Chen Y et al.

Bmc Biology, 2025

Phase II Trial of the PARP Inhibitor, Niraparib, in BAP1 and Other DNA Damage Response Pathway-Deficient Neoplasms.

George TJ et al.

Jco Precision Oncology, 2024

GNAQ/GNA11-Related Benign and Malignant Entities-A Common Histoembriologic Origin or a Tissue-Dependent Coincidence.

Pilch J et al.

Cancers, 2024

The Impact of Spliceosome Inhibition in SF3B1-Mutated Uveal Melanoma.

Nguyen JQN et al.

Investigative Ophthalmology & Visual Science, 2024

39374010 (PubMed )
Supplement: iovs-65-12-11_s001.pdf

GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.

Ikeuchi H et al.

Oncogene, 2024

39095584 (PubMed )
Supplement: 41388_2024_3105_MOESM2_ESM.xlsx › Supplementary_Table_S6

The Advantage of Targeted Next-Generation Sequencing over qPCR in Testing for Druggable EGFR Variants in Non-Small-Cell Lung Cancer.

Szpechcinski A et al.

International Journal of Molecular Sciences, 2024

39063150 (PubMed )
Supplement: ijms-25-07908-s001.zip › ijms-3103240-supplementary.pdf

Impact of Driver Mutations on Metastasis-Free Survival in Uveal Melanoma: A Meta-Analysis.

Lamas-Francis D et al.

Cancers, 2024

Clearance of plasma cell free DNA in metastatic uveal melanoma with radiographic response to immune checkpoint inhibitors.

Francis JH et al.

American Journal of Ophthalmology Case Reports, 2024

Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

Revencu N et al.

Orphanet Journal of Rare Diseases, 2024

38778413 (PubMed )
Supplement: 13023_2024_3196_MOESM2_ESM.xlsx › GNA11_CH

Bilateral Uveal Melanoma: An Insight into Genetic Predisposition in Four New Unrelated Patients and Review of Published Cases.

Silva-Rodríguez P et al.

Journal of Clinical Medicine, 2024

Lack of shared neoantigens in prevalent mutations in cancer.

Ragone C et al.

Journal of Translational Medicine, 2024

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1

A multiparameter liquid biopsy approach allows to track melanoma dynamics and identify early treatment resistance.

Scaini MC et al.

Npj Precision Oncology, 2024

38548846 (PubMed )
Supplement: 41698_2024_567_MOESM1_ESM.pdf

INPP5A phosphatase is a synthetic lethal target in GNAQ and GNA11-mutant melanomas.

Elbatsh AMO et al.

Nature Cancer, 2024

38233483 (PubMed )
Supplement: 43018_2023_710_MOESM19_ESM.xlsx › Extended_Data_Fig._5
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