Varaico: Literature-Extracted Genetic Variants

Gene:SETD2
Variant:p.E1394insFs
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SETD2

NM_014159.7:p.E1394insFs

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

Integrated analysis of canine soft tissue sarcomas identifies recurrent mutations in TP53, KMT genes and PDGFB fusions.

Das S et al.

Scientific Reports, 2023

37369741 (PubMed )
Supplement: 41598_2023_37266_MOESM2_ESM.xlsx › Table_S5

Recurrent mutations in topoisomerase IIα cause a previously undescribed mutator phenotype in human cancers.

Boot A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

35058360 (PubMed )
Supplement: pnas.2114024119.sd08.xlsx › Dataset.S8

Therapy-related Acute Lymphoblastic Leukaemia has a Unique Genetic Profile Compared to De Novo Acute Lymphoblastic Leukaemia.

Kook HW et al.

Journal of Cancer, 2022

36186901 (PubMed )
Supplement: jcav13p3326s1.pdf
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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."