Varaico: Literature-Extracted Genetic Variants

Gene:SETD2
Variant:p.R2510H
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SETD2

NM_014159.7:p.R2510H

Associated Papers

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A

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

SETD2 maintains nuclear lamina stability to safeguard the genome.

Khan A et al.

Biorxiv : the Preprint Server for Biology, 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 › Suppl._Table_6

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Kage H et al.

Cancer Science, 2023

36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3

Structural and functional specificity of H3K36 methylation.

Lam UTF et al.

Epigenetics & Chromatin, 2022

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

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

Mutations and Copy Number Alterations in IDH Wild-Type Glioblastomas Are Shaped by Different Oncogenic Mechanisms.

Ülgen E et al.

Biomedicines, 2020

Medullary Pancreatic Carcinoma Due to Somatic POLE Mutation: A Distinctive Pancreatic Carcinoma With Marked Long-Term Survival.

Kryklyva V et al.

Pancreas, 2020

32658072 (PubMed )
Supplement: mpa-49-999-s001.pdf

A Systematic Pan-Cancer Analysis of Genetic Heterogeneity Reveals Associations with Epigenetic Modifiers.

de Matos MR et al.

Cancers, 2019

30897760 (PubMed )
Supplement: cancers-11-00391-s001.zip › cancers-454401_-_supplementary_file_3.21 › cancers-454401_-_Supplementary_Tables_1-7.xlsx › SupTable3

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

Chiang YC et al.

Cancer Research, 2018

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
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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."