Varaico: Literature-Extracted Genetic Variants

Gene:RXRA
Variant:p.S427F
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RXRA

NM_002957.6:p.S427F

Associated Papers

A structurally informed human protein-protein interactome reveals proteome-wide perturbations caused by disease mutations.

Xiong D et al.

Nature Biotechnology, 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: mmc3.xlsx › All

Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples.

Axelsson TA et al.

Bju International, 2025

39654327 (PubMed )
Supplement: BJU-135-792-s001.xlsx › Sheet1

The interplay of mutagenesis and ecDNA shapes urothelial cancer evolution.

Nguyen DD et al.

Nature, 2024

39385020 (PubMed )
Supplement: 41586_2024_7955_MOESM11_ESM.xlsx › Figure_3e

Exploring the molecular pathways of the activation process in PPARγ recurrent bladder cancer mutants.

de Oliveira VM et al.

The Journal of Chemical Physics, 2024

Whole-genome mapping of APOBEC mutagenesis in metastatic urothelial carcinoma identifies driver hotspot mutations and a novel mutational signature.

Nakauma-González JA et al.

Cell Genomics, 2024

Computational refinement identifies functional destructive single nucleotide polymorphisms associated with human retinoid X receptor gene.

Sarkar S et al.

Journal of Biomolecular Structure & Dynamics, 2023

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

Tate T et al.

Cancers, 2023

RXRA DT448/9PP generates a dominant active variant capable of inducing maturation in acute myeloid leukemia cells.

Di Martino O et al.

Haematologica, 2022

Systematic Pan-Cancer Characterization of Nuclear Receptors Identifies Potential Cancer Biomarkers and Therapeutic Targets.

Jiang J et al.

Cancer Research, 2022

Stage-stratified molecular profiling of non-muscle-invasive bladder cancer enhances biological, clinical, and therapeutic insight.

Hurst CD et al.

Cell Reports. Medicine, 2021

The effect of S427F mutation on RXRα activity depends on its dimeric partner.

Galdadas I et al.

Chemical Science, 2021

p53 mitigates the effects of oncogenic HRAS in urothelial cells via the repression of MCOLN1.

Jung J et al.

Iscience, 2021

34222845 (PubMed )
Supplement: mmc6.xlsx › Supplementary_Table_5

Cell-Intrinsic Tumorigenic Functions of PPARγ in Bladder Urothelial Carcinoma.

Sanchez DJ et al.

Molecular Cancer Research : Mcr, 2021

Comprehensive characterization of protein-protein interactions perturbed by disease mutations.

Cheng F et al.

Nature Genetics, 2021

My personal mutanome: a computational genomic medicine platform for searching network perturbing alleles linking genotype to phenotype.

Zhou Y et al.

Genome Biology, 2021

33514395 (PubMed )
Supplement: 13059_2021_2269_MOESM2_ESM.docx

Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.

Vandekerkhove G et al.

Nature Communications, 2021

33420073 (PubMed )
Supplement: 41467_2020_20493_MOESM3_ESM.xlsx › Supplementary_Data_4

Deep Genomic Sequencing of Bladder Urothelial Carcinoma in Southern Chinese Patients: A Single-Center Study.

Li DY et al.

Frontiers in Oncology, 2021

34055593 (PubMed )
Supplement: Table_1.xlsx › genomic_alterations_information

Genomic Instability Signature of Palindromic Non-Coding Somatic Mutations in Bladder Cancer.

Vacher S et al.

Cancers, 2020

33049910 (PubMed )
Supplement: cancers-12-02882-s001.zip › cancers-960774-Supplementary_materials.pdf

Identification of new driver and passenger mutations within APOBEC-induced hotspot mutations in bladder cancer.

Shi MJ et al.

Genome Medicine, 2020

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM2_ESM.xlsx › S2

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

Recurrent activating mutations of PPARγ associated with luminal bladder tumors.

Rochel N et al.

Nature Communications, 2019

Genomic case report of a low grade bladder tumor metastasis to lung.

Van Every MJ et al.

Bmc Urology, 2018

Mutational patterns in chemotherapy resistant muscle-invasive bladder cancer.

Liu D et al.

Nature Communications, 2017

29259186 (PubMed )
Supplement: 41467_2017_2320_MOESM1_ESM.pdf

Genomic Activation of PPARG Reveals a Candidate Therapeutic Axis in Bladder Cancer.

Goldstein JT et al.

Cancer Research, 2017

Bladder-cancer-associated mutations in RXRA activate peroxisome proliferator-activated receptors to drive urothelial proliferation.

Halstead AM et al.

Elife, 2017

Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Chen F et al.

Nature Communications, 2017

28775315 (PubMed )
Supplement: 41467_2017_289_MOESM7_ESM.xlsx › mutation_data

Multiplex PCR and Next Generation Sequencing for the Non-Invasive Detection of Bladder Cancer.

Ward DG et al.

Plos One, 2016

26901314 (PubMed )
Supplement: pone.0149756.s006.xlsx › Sheet1

Bioinformatics analysis of thousands of TCGA tumors to determine the involvement of epigenetic regulators in human cancer.

Gnad F et al.

Bmc Genomics, 2015

26110843 (PubMed )
Supplement: 1471-2164-16-S8-S5-S7.xls › RecurrentMutations

Comprehensive molecular characterization of urothelial bladder carcinoma.

Unknown Author

Nature, 2014

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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."