Varaico: Literature-Extracted Genetic Variants

Gene:SETD2
Variant:p.R1322*
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SETD2

NM_014159.7:p.R1322*

Associated Papers

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1

Cellular and molecular functions of SETD2 in the central nervous system.

Mitchell B et al.

Journal of Cell Science, 2023

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.

Parra A et al.

Genes, 2023

Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Liu T et al.

Nature Communications, 2022

35347147 (PubMed )
Supplement: 41467_2022_29336_MOESM8_ESM.xlsx › Sheet1

Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.

Tran TH et al.

Blood Advances, 2022

34933343 (PubMed )
Supplement: advancesADV2021005634-suppl1.xlsx › S3_Mutation_details

A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Kang T et al.

Breast Cancer Research : Bcr, 2020

32736587 (PubMed )
Supplement: 13058_2020_1322_MOESM3_ESM.xlsx › F_batch

Clinical characterization and mutation spectrum in patients with familial adenomatous polyposis in China.

Li N et al.

Journal of Gastroenterology and Hepatology, 2019

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 mutations in primary central nervous system tumors.

Viaene AN et al.

Acta Neuropathologica Communications, 2018

Clinical Actionability of Comprehensive Genomic Profiling for Management of Rare or Refractory Cancers.

Hirshfield KM et al.

The Oncologist, 2016

27566247 (PubMed )
Supplement: supp_the2016-0049_Supplemental_Tables.pdf

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

Mutational landscape and significance across 12 major cancer types.

Kandoth C et al.

Nature, 2013

24132290 (PubMed )
Supplement: 41586_2013_BFnature12634_MOESM82_ESM.zip › nature12634-s1 › Supplementary_Table_5.xlsx › S_Table_5
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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."