Varaico: Literature-Extracted Genetic Variants

Gene:SETD2
Variant:p.R1625C
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SETD2

NM_014159.7:p.R1625C

Associated Papers

The SETD2 L1609P mutation found in leukemia disrupts methyltransferase activity and reduces histone H3K36 trimethylation.

Michail C et al.

The Journal of Biological Chemistry, 2026

Emerging Roles of Tubulin Isoforms and Their Post-Translational Modifications in Microtubule-Based Transport and Cellular Functions.

Nair AR et al.

Biomolecules, 2026

A SETD2-CDK1-lamin axis maintains nuclear morphology and genome stability.

Khan A et al.

Nature Cell Biology, 2025

Prediction tools for assessing functional impacts of gene mutations in Clear Cell Renal Cell Carcinoma: A comparative study.

Yang CH et al.

Computers in Biology and Medicine, 2025

Structure and function of the lysine methyltransferase SETD2 in cancer: From histones to cytoskeleton.

Michail C et al.

Neoplasia (new York, N.y.), 2025

Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.

Yang X et al.

Bmc Medicine, 2024

38281914 (PubMed )
Supplement: 12916_2024_3257_MOESM1_ESM.xlsx › Table_S4

SETD2 maintains nuclear lamina stability to safeguard the genome.

Khan A et al.

Biorxiv : the Preprint Server for Biology, 2023

SETD2 safeguards the genome against isochromosome formation.

Mason FM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant of SETD2 gene: Case report and literature review.

Zhang Y et al.

Frontiers in Genetics, 2023

Structural and functional specificity of H3K36 methylation.

Lam UTF et al.

Epigenetics & Chromatin, 2022

The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Karachaliou GS et al.

Bmc Cancer, 2022

34986841 (PubMed )
Supplement: 12885_2021_8908_MOESM2_ESM.xlsx › APC_CTNNB1_wild_type

SETD2 regulates the methylation of translation elongation factor eEF1A1 in clear cell renal cell carcinoma.

Hapke R et al.

Kidney Cancer Journal : Official Journal of the Kidney Cancer Association, 2022

AKT3-mediated IWS1 phosphorylation promotes the proliferation of EGFR-mutant lung adenocarcinomas through cell cycle-regulated U2AF2 RNA splicing.

Laliotis GI et al.

Nature Communications, 2021

α-TubK40me3 is required for neuronal polarization and migration by promoting microtubule formation.

Xie X et al.

Nature Communications, 2021

Molecular determinants for α-tubulin methylation by SETD2.

Kearns S et al.

The Journal of Biological Chemistry, 2021

Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.

Tsui DWY et al.

Genome Medicine, 2021

34059130 (PubMed )
Supplement: 13073_2021_898_MOESM3_ESM.xlsx › SuppTable1

A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Kang T et al.

Breast Cancer Research : Bcr, 2020

32736587 (PubMed )
Supplement: 13058_2020_1322_MOESM3_ESM.xlsx › F_batch

Metastatic Thymoma Harboring a Deleterious BRCA2 Mutation Derives Durable Clinical Benefit from Olaparib.

Principe DR et al.

The Oncologist, 2020

Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Wang S et al.

Frontiers in Oncology, 2020

32373528 (PubMed )
Supplement: Table_6.xlsx › Sheet1

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

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.

Marzin P et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019

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

SETD2 Haploinsufficiency for Microtubule Methylation Is an Early Driver of Genomic Instability in Renal Cell Carcinoma.

Chiang YC et al.

Cancer Research, 2018

Mutational profiles of Brenner tumors show distinctive features uncoupling urothelial carcinomas and ovarian carcinoma with transitional cell histology.

Pfarr N et al.

Genes, Chromosomes & Cancer, 2017

Therapy-Related Clonal Hematopoiesis in Patients with Non-hematologic Cancers Is Common and Associated with Adverse Clinical Outcomes.

Coombs CC et al.

Cell Stem Cell, 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

Structure/Function Analysis of Recurrent Mutations in SETD2 Protein Reveals a Critical and Conserved Role for a SET Domain Residue in Maintaining Protein Stability and Histone H3 Lys-36 Trimethylation.

Hacker KE et al.

The Journal of Biological Chemistry, 2016

Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).

Ricketts CJ et al.

Plos One, 2015

26484545 (PubMed )
Supplement: pone.0140257.s003.xlsx › Sheet1

Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas.

Fontebasso AM et al.

Acta Neuropathologica, 2013

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.

Dalgliesh GL et al.

Nature, 2010

20054297 (PubMed )
Supplement: NIHMS28099-supplement-10.xls › Sheet1
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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."