Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S1039L
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TET2

NM_001127208.3:p.S1039L

Associated Papers

Samples from patients with AML show high concordance in detection of mutations by NGS at local institutions vs central laboratories.

Borate U et al.

Blood Advances, 2023

Impact of mutations on pregnancy outcome in patients with myeloproliferative neoplasms.

Maze D et al.

Ejhaem, 2023

Single-Nucleotide Variations, Insertions/Deletions and Copy Number Variations in Myelodysplastic Syndrome during Disease Progression Revealed by a Single-Cell DNA Sequencing Platform.

Lee P et al.

International Journal of Molecular Sciences, 2022

35563039 (PubMed )
Supplement: ijms-23-04647-s001.zip › Supplemental_file_S2.xlsx › Supp_Table_S2

TET2 Variants in Japanese Patients With Pulmonary Arterial Hypertension.

Hiraide T et al.

Cjc Open, 2022

Pedigree investigation, clinical characteristics, and prognosis analysis of haematological disease patients with germline TET2 mutation.

Wu X et al.

Bmc Cancer, 2022

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_2.xlsx › germline_alterations

TET2 mutations in acute myeloid leukemia: a comprehensive study in patients of Sindh, Pakistan.

Shaikh ARK et al.

Peerj, 2021

Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.

Gao J et al.

International Journal of Molecular Sciences, 2020

32344918 (PubMed )
Supplement: ijms-21-03040-s001.zip › Supplementary_Data › Supplementary_Data_2.xlsx › S_Data_2

TET2 missense variants in human neoplasia. A proposal of structural and functional classification.

Bussaglia E et al.

Molecular Genetics & Genomic Medicine, 2019

31187595 (PubMed )
Supplement: MGG3-7-e00772-s004.doc

Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Lee JW et al.

Plos One, 2019

31747416 (PubMed )
Supplement: pone.0224227.s002.xlsx › SNV

Dysfunction of the WT1-MEG3 signaling promotes AML leukemogenesis via p53-dependent and -independent pathways.

Lyu Y et al.

Leukemia, 2017

28400619 (PubMed )
Supplement: leu2017116x1.docx

Clonal leukemic evolution in myelodysplastic syndromes with TET2 and IDH1/2 mutations.

Lin TL et al.

Haematologica, 2014

Feature-based classification of amino acid substitutions outside conserved functional protein domains.

Gemovic B et al.

Thescientificworldjournal, 2013

24348198 (PubMed )
Supplement: 948617.f1.pdf

[Pedigree investigation of clinicopathologic features and alpha-galactosidase A gene mutation in a family with Fabry disease].

Liu XX et al.

Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition, 2012

[Investigation of family pedigree rare blood group of JK(a-b-) phenotype].

Gong TX et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2012

TET2 mutation is an unfavorable prognostic factor in acute myeloid leukemia patients with intermediate-risk cytogenetics.

Chou WC et al.

Blood, 2011

[JAK2V617F mutation in the patients with myeloproliferative disorder and its relation with clinical characteristics].

Zhu JF et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2011

[Mutation of tet2 gene and malignant blood disease].

Qian XF et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2010

[Report of gene mutation hot spots analysis in one congenital cataract pedigree].

Zhang X et al.

Yan Ke Xue Bao = Eye Science, 2004

Adult Acute Myeloid Leukemia with the KMT2A-Mixed Lineage Leukemia T10 Fusion: An Analysis of 10 Cases Showed Common Features and Frequent Mutations in the RAS Signaling Pathway.

Cai X et al.

Acta Haematologica, 0

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