Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.R392Q
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SH2B3

NM_005475.3:p.R392Q

Associated Papers

Germline heterozygous SH2B3 p.Glu78Lys variant: a three-patient case series with myeloproliferative neoplasms.

Iaquinta G et al.

Experimental Hematology, 2026

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

Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement.

Leardini D et al.

European Journal of Human Genetics : Ejhg, 2025

Single-cell DNA and surface protein characterization of high hyperdiploid acute lymphoblastic leukemia at diagnosis and during treatment.

Aertgeerts M et al.

Hemasphere, 2025

39944233 (PubMed )
Supplement: HEM3-9-e70085-s003.xlsx › XJ176

LNK/SH2B3 as a novel driver in juvenile myelomonocytic leukemia.

Wintering A et al.

Haematologica, 2024

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.

Homan CC et al.

Blood Advances, 2023

37406166 (PubMed )
Supplement: BLOODA_ADV-2023-010045-mmc4.xlsx › Supp_Table_3__final

Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Adema V et al.

Ebiomedicine, 2022

35617825 (PubMed )
Supplement: mmc3.xlsx › Suppl_Table_3

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM4_ESM.xlsx › Sheet1

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

Maslah N et al.

Leukemia, 2017

Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree.

Tawana K et al.

European Journal of Human Genetics : Ejhg, 2017

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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."