Varaico: Literature-Extracted Genetic Variants

Gene:CYSLTR2
Variant:p.L129Q
Back to variants list

CYSLTR2

NM_001308476.3:p.L129Q

Associated Papers

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

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

Dore S et al.

Oncology Research, 2026

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

40240901 (PubMed )
Supplement: 13046_2025_3374_MOESM2_ESM.xlsx › Supplementary_Table_1

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

Nell RJ et al.

Scientific Reports, 2025

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

Systems modeling of oncogenic G-protein and GPCR signaling reveals unexpected differences in downstream pathway activation.

Trogdon M et al.

Npj Systems Biology and Applications, 2024

Pathological and Molecular Diagnosis of Uveal Melanoma.

Păsărică MA et al.

Diagnostics (basel, Switzerland), 2024

Characterization of somatic mutations in sporadic uveal melanoma and uveal melanoma in patients with germline BAP1 pathogenic variants.

Wadt KAW et al.

Plos One, 2024

Histologic and Genetic Features of 51 Melanocytic Neoplasms With Protein Kinase C Fusion Genes.

de la Fouchardière A et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

Blue naevi and the blue tumour spectrum.

de la Fouchardiere A

Pathology, 2023

Identification of T Cell Receptors Targeting a Neoantigen Derived from Recurrently Mutated FGFR3.

Tate T et al.

Cancers, 2023

36831375 (PubMed )
Supplement: cancers-15-01031-s001.zip › Supplementary_Table_S1.xlsx › Table_S1

Genetics and RNA Regulation of Uveal Melanoma.

Barbagallo C et al.

Cancers, 2023

Attempting to Solve the Pigmented Epithelioid Melanocytoma (PEM) Conundrum: PRKAR1A Inactivation Can Occur in Different Genetic Backgrounds (Common, Blue, and Spitz Subgroups) With Variation in Their Clinicopathologic Characteristics.

de la Fouchardiere A et al.

The American Journal of Surgical Pathology, 2022

MITF deficiency accelerates GNAQ-driven uveal melanoma.

Phelps GB et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

Phenotypic evaluation of constitutive GPCR/G-protein signaling in zebrafish embryos and larvae.

Shibata T et al.

Biochemical and Biophysical Research Communications, 2022

Uveal melanoma-associated mutations in PLCβ4 are constitutively activating and promote melanocyte proliferation and tumorigenesis.

Phan HTN et al.

Science Signaling, 2021

Bioinformatics analysis of GNAQ, GNA11, BAP1, SF3B1,SRSF2, EIF1AX, PLCB4, and CYSLTR2 genes and their role in the pathogenesis of Uveal Melanoma.

Akin-Bali DF

Ophthalmic Genetics, 2021

Analytical Validation and Performance of a 7-Gene Next-Generation Sequencing Panel in Uveal Melanoma.

Alsina KM et al.

Ocular Oncology and Pathology, 2021

Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.

Lee WS et al.

Scientific Reports, 2021

Circulating tumor DNA tracking through driver mutations as a liquid biopsy-based biomarker for uveal melanoma.

Bustamante P et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2021

Involvement of mutant and wild-type CYSLTR2 in the development and progression of uveal nevi and melanoma.

Nell RJ et al.

Bmc Cancer, 2021

Functional characterization of uveal melanoma oncogenes.

Ma J et al.

Oncogene, 2021

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

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

Johansson PA et al.

Nature Communications, 2020

Targeted Next-Generation Sequencing of 117 Routine Clinical Samples Provides Further Insights into the Molecular Landscape of Uveal Melanoma.

Thornton S et al.

Cancers, 2020

Molecular profiling of driver events in metastatic uveal melanoma.

Karlsson J et al.

Nature Communications, 2020

32313009 (PubMed )
Supplement: 41467_2020_15606_MOESM4_ESM.xlsx › All_variants

CYSLTR2-mutant Cutaneous Melanocytic Neoplasms Frequently Simulate "Pigmented Epithelioid Melanocytoma," Expanding the Morphologic Spectrum of Blue Tumors: A Clinicopathologic Study of 7 Cases.

Goto K et al.

The American Journal of Surgical Pathology, 2019

Spliceosomal disruption of the non-canonical BAF complex in cancer.

Inoue D et al.

Nature, 2019

Rare, functional, somatic variants in gene families linked to cancer genes: GPCR signaling as a paradigm.

Raimondi F et al.

Oncogene, 2019

Oncogenic signaling in uveal melanoma.

Park JJ et al.

Pigment Cell & Melanoma Research, 2018

Chromosomal rearrangements in uveal melanoma: Chromothripsis.

van Poppelen NM et al.

Genes, Chromosomes & Cancer, 2018

Evaluation of oncogenic cysteinyl leukotriene receptor 2 as a therapeutic target for uveal melanoma.

Slater K et al.

Cancer Metastasis Reviews, 2018

Intraventricular melanocytoma diagnosis confirmed by gene mutation profile.

Knappe UJ et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2018

Whole-exome sequencing of a meningeal melanocytic tumour reveals activating CYSLTR2 and EIF1AX hotspot mutations and similarities to uveal melanoma.

Küsters-Vandevelde HVN et al.

Brain Tumor Pathology, 2018

GNA11 Q209L Mouse Model Reveals RasGRP3 as an Essential Signaling Node in Uveal Melanoma.

Moore AR et al.

Cell Reports, 2018

[Uveal melanoma, a model disease for splicing alterations and oncogenesis].

Alsafadi S et al.

Medecine Sciences : M/s, 2018

Activating CYSLTR2 and PLCB4 Mutations in Primary Leptomeningeal Melanocytic Tumors.

van de Nes JAP et al.

The Journal of Investigative Dermatology, 2017

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

Systematic genomic and translational efficiency studies of uveal melanoma.

Johnson CP et al.

Plos One, 2017

Recurrent activating mutations of G-protein-coupled receptor CYSLTR2 in uveal melanoma.

Moore AR et al.

Nature Genetics, 2016

1–50 of 53 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."