Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.S186I
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SH2B3

NM_005475.3:p.S186I

Associated Papers

Diagnostic relevance of SH2B3 mutations in suspected myeloid malignancies and acute leukemia: insights from a large-scale NGS-based screening study.

Ben Dhia L et al.

Blood Cancer Journal, 2025

41136376 (PubMed )
Supplement: 41408_2025_1392_MOESM2_ESM.pdf

Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity.

Zhang Y et al.

The Journal of Experimental Medicine, 2024

38417019 (PubMed )
Supplement: EMS196089-supplement-Supplementary_Figure_Caption.docx

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_15

Imetelstat-mediated alterations in fatty acid metabolism to induce ferroptosis as a therapeutic strategy for acute myeloid leukemia.

Bruedigam C et al.

Nature Cancer, 2024

37904045 (PubMed )
Supplement: 43018_2023_653_MOESM22_ESM.xlsx › Extended_Data_Fig._9c_HemePACT

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Alkhamis FA et al.

Functional & Integrative Genomics, 2023

36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_variants

Histological and genetic characterization and follow-up of 130 patients with chronic triple-negative thrombocytosis.

Lemoine S et al.

Haematologica, 2022

35833299 (PubMed )
Supplement: 2022_280917_LEMOINE_SUPPL.pdf

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s002.xlsx › All_variants_in_candidate_genes

Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project

Sargas C et al.

Haematologica, 2021

33179471 (PubMed )
Supplement: 2020_263806_SARGAS_SUPPL.pdf

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

Wagener R et al.

European Journal of Human Genetics : Ejhg, 2021

33840814 (PubMed )
Supplement: 41431_2021_878_MOESM2_ESM.xlsx › Table_S3

New progress in the study of germline susceptibility genes of myeloid neoplasms.

Bi L et al.

Oncology Letters, 2021

Spectrum of abnormalities and clonal transformation in germline RUNX1 familial platelet disorder and a genomic comparative analysis with somatic RUNX1 mutations in MDS/MPN overlap neoplasms.

DiFilippo EC et al.

Leukemia, 2020

Clonal Evolution after Allogeneic Hematopoietic Stem Cell Transplantation: The Case of Myelofibrosis.

Christopeit M et al.

Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2020

Hematopoietic stem-cell senescence and myocardial repair - Coronary artery disease genotype/phenotype analysis of post-MI myocardial regeneration response induced by CABG/CD133+ bone marrow hematopoietic stem cell treatment in RCT PERFECT Phase 3.

Wolfien M et al.

Ebiomedicine, 2020

The role of LNK/SH2B3 genetic alterations in myeloproliferative neoplasms and other hematological disorders.

Maslah N et al.

Leukemia, 2017

LNK mutations and myeloproliferative disorders.

McMullin MF et al.

American Journal of Hematology, 2016

A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.

Lu C et al.

Cold Spring Harbor Molecular Case Studies, 2016

27148581 (PubMed )
Supplement: supp_2.1.a000687_Supp_Table_2.xlsx › germline.missense

LNK can also be mutated outside PH and SH2 domains in myeloproliferative neoplasms with and without V617FJAK2 mutation.

Hurtado C et al.

Leukemia Research, 2011

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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."