Varaico: Literature-Extracted Genetic Variants

Gene:SETD2
Variant:p.R1407fs
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SETD2

NM_014159.7:p.R1407fs

Associated Papers

MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma.

Friker LL et al.

Acta Neuropathologica, 2025

39894875 (PubMed )
Supplement: 401_2025_2846_MOESM1_ESM.xlsx › Sheet1

Mismatch repair-deficient glioma with spatially distinct IDH-mutant and IDH-wild type components arising in the setting of Lynch syndrome.

Tan H et al.

Cold Spring Harbor Molecular Case Studies, 2023

37076313 (PubMed )
Supplement: supp_mcs.a006280_Supplemental_Table_1.xlsx › Complete_detected_variants

Combined DNA repair defects in testicular metastasis from prostate cancer sensitize to immune checkpoint blockade.

Vlachostergios PJ

Current Urology, 2021

Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.

Hendricks A et al.

Cancers, 2020

32046290 (PubMed )
Supplement: cancers-12-00393-s001.zip › cancers-698395-2.revision.supplementary_materials › SuppTables_S1-S7_.xlsx › S5_American_patients_mutations

Genetic and immune profiling for potential therapeutic targets in adult human craniopharyngioma.

Kassab C et al.

Clinical Oncology and Research, 2019

Recurrent Mutations of Chromatin-Remodeling Genes and Kinase Receptors in Pheochromocytomas and Paragangliomas.

Toledo RA et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

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."