Varaico: Literature-Extracted Genetic Variants

Gene:SETD2
Variant:p.R1407delFs
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SETD2

NM_014159.7:p.R1407delFs

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

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

ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.

Zhou Y et al.

Science Advances, 2023

37992168 (PubMed )
Supplement: sciadv.adg2263_tables_s1_to_s5.zip › adg2263_Table_S1.xlsx › Genomic_data

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

Frameshift mutation of a histone methylation-related gene SETD1B and its regional heterogeneity in gastric and colorectal cancers with high microsatellite instability.

Choi YJ et al.

Human Pathology, 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."