Varaico: Literature-Extracted Genetic Variants

Gene:GNA11
Variant:p.R183H
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GNA11

NM_002067.5:p.R183H

Associated Papers

Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.

Jha P et al.

The Journal of Liquid Biopsy, 2025

40503459 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

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

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

A Review of Sturge-Weber Syndrome Brain Involvement, Cannabidiol Treatment and Molecular Pathways.

Joslyn KE et al.

Molecules (basel, Switzerland), 2024

Inflammatory Giant Cell Carcinoma of the Lung: Clinicopathologic, Immunohistochemical, and Next-generation Sequencing Study of 14 Cases.

Suster DI et al.

The American Journal of Surgical Pathology, 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

Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.

Lee K et al.

Scientific Reports, 2023

37336919 (PubMed )
Supplement: 41598_2023_35925_MOESM1_ESM.xlsx › Table_S4__patho_variants_

Genetics and RNA Regulation of Uveal Melanoma.

Barbagallo C et al.

Cancers, 2023

Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.

Diociaiuti A et al.

Biomedicines, 2022

35740480 (PubMed )
Supplement: biomedicines-10-01460-s001.zip › biomedicines-1597195-supplementary.pdf

Mixed vascular naevus syndrome: report of three children with somatic GNA11 mutation and new systemic associations.

Beteta-Gorriti V et al.

Clinical and Experimental Dermatology, 2022

Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours.

Johansson PA et al.

Nature Communications, 2020

SF3B1 and BAP1 mutations in blue nevus-like melanoma.

Griewank KG et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2017

Activating cysteinyl leukotriene receptor 2 (CYSLTR2) mutations in blue nevi.

Möller I et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2017

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

O'Hayre M et al.

Nature Reviews. Cancer, 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."