Varaico: Literature-Extracted Genetic Variants

Gene:SETD2
Variant:p.R2510L
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SETD2

NM_014159.7:p.R2510L

Associated Papers

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

Genetic alterations in squamous cell lung cancer associated with idiopathic pulmonary fibrosis.

Hata A et al.

International Journal of Cancer, 2021

Characterization of tumor mutation burden, PD-L1 and DNA repair genes to assess relationship to immune checkpoint inhibitors response in metastatic renal cell carcinoma.

Labriola MK et al.

Journal for Immunotherapy of Cancer, 2020

32221016 (PubMed )
Supplement: jitc-2019-000319supp001.xlsx › Supp_Table_1

Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.

Meng H et al.

Biomed Research International, 2020

33062672 (PubMed )
Supplement: 2495157.f1.xlsx › Table_S5

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

Variation in chromatin accessibility in human kidney cancer links H3K36 methyltransferase loss with widespread RNA processing defects.

Simon JM et al.

Genome Research, 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."