Varaico: Literature-Extracted Genetic Variants

Gene:SPOP
Variant:p.R121Q
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SPOP

NM_001007228.2:p.R121Q

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

The equilibrium between two quaternary assembly states determines the activity of SPOP and its cancer mutants.

Cuneo MJ et al.

Biorxiv : the Preprint Server for Biology, 2025

Clinical Insights Into Nabais Sá-De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features.

Galli J et al.

American Journal of Medical Genetics. Part A, 2025

Unveiling immunogenic characteristics and neoantigens in endometrial cancer with POLE hotspot mutations for improved immunotherapy.

Huang J et al.

Frontiers in Immunology, 2025

39931062 (PubMed )
Supplement: Table1.xlsx › Sheet1

SPOP point mutations regulate substrate preference and affect its function.

Deng Y et al.

Cell Death & Disease, 2024

Reduction of oligomer size modulates the competition between cluster formation and phase separation of the tumor suppressor SPOP.

Sabri N et al.

The Journal of Biological Chemistry, 2023

Opposing Roles of SPOP Mutations in Human Prostate and Endometrial Cancers.

Cavalcante L et al.

Jco Precision Oncology, 2023

Reduction of oligomer size modulates the competition between cluster formation and phase separation of the tumor suppressor SPOP.

Sabri N et al.

Biorxiv : the Preprint Server for Biology, 2023

Higher-order SPOP assembly reveals a basis for cancer mutant dysregulation.

Cuneo MJ et al.

Molecular Cell, 2023

SPOP mutations promote tumor immune escape in endometrial cancer via the IRF1-PD-L1 axis.

Gao K et al.

Cell Death and Differentiation, 2023

Nabais Sa-de Vries syndrome in a Chinese infant associated with a novel SPOP mutation: A clinical study and genetic report.

Hu W et al.

Molecular Genetics & Genomic Medicine, 2022

The Roles of SPOP in DNA Damage Response and DNA Replication.

Maekawa M et al.

International Journal of Molecular Sciences, 2020

The mutational landscape of normal human endometrial epithelium.

Moore L et al.

Nature, 2020

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.

Nabais Sá MJ et al.

American Journal of Human Genetics, 2020

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Drivers-not-HR

The ubiquitin ligase adaptor SPOP in cancer.

Cuneo MJ et al.

The Febs Journal, 2019

Opposing effects of cancer-type-specific SPOP mutants on BET protein degradation and sensitivity to BET inhibitors.

Janouskova H et al.

Nature Medicine, 2017

Genetic analysis of uterine adenosarcomas and phyllodes tumors of the breast.

Geyer FC et al.

Molecular Oncology, 2017

28267263 (PubMed )
Supplement: MOL2-11-913-s007.pdf

Targeted mutation analysis of endometrial clear cell carcinoma.

Hoang LN et al.

Histopathology, 2015

Endometrial cancer-associated mutants of SPOP are defective in regulating estrogen receptor-α protein turnover.

Zhang P et al.

Cell Death & Disease, 2015

Mutational landscape and significance across 12 major cancer types.

Kandoth C et al.

Nature, 2013

24132290 (PubMed )
Supplement: 41586_2013_BFnature12634_MOESM82_ESM.zip › nature12634-s1 › Supplementary_Table_5.xlsx › S_Table_5

Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.

Le Gallo M et al.

Nature Genetics, 2012

23104009 (PubMed )
Supplement: NIHMS412622-supplement-1.pdf
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