Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.V402M
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SH2B3

NM_005475.3:p.V402M

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

A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.

Galbo PM et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40158885 (PubMed )
Supplement: mmc8.xlsx › Sheet1

Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.

Arfeuille C et al.

Haematologica, 2024

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

Biallelic deleterious germline SH2B3 variants cause a novel syndrome of myeloproliferation and multi-organ autoimmunity.

Blombery P et al.

Ejhaem, 2023

Structural and functional analysis of target recognition by the lymphocyte adaptor protein LNK.

Morris R et al.

Nature Communications, 2021

SH2B3 inactivation through CN-LOH 12q is uniquely associated with B-cell precursor ALL with iAMP21 or other chromosome 21 gain.

Sinclair PB et al.

Leukemia, 2019

Mutational profiling of isolated myeloid sarcomas and utility of serum 2HG as biomarker of IDH1/2 mutations.

Willekens C et al.

Leukemia, 2018

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

Maslah N et al.

Leukemia, 2017

Whole-exome sequencing in evaluation of patients with venous thromboembolism.

Lee EJ et al.

Blood Advances, 2017

The Polymorphisms in LNK Gene Correlated to the Clinical Type of Myeloproliferative Neoplasms.

Chen Y et al.

Plos One, 2016

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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."