Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.A536T
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SH2B3

NM_005475.3:p.A536T

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

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

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

BCORL1 S878G, GNB1 G116S, SH2B3 A536T, and KMT2D S3708R tetramutation co-contribute to a pediatric acute myeloid leukemia: Case report and literature review.

Wang L et al.

Frontiers in Pediatrics, 2022

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

HOXBLINC long non-coding RNA activation promotes leukemogenesis in NPM1-mutant acute myeloid leukemia.

Zhu G et al.

Nature Communications, 2021

33782403 (PubMed )
Supplement: 41467_2021_22095_MOESM1_ESM.pdf

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

A low-frequency GLIS3 variant associated with resistance to Japanese type 1 diabetes.

Awata T et al.

Biochemical and Biophysical Research Communications, 2013

[Classification for myeloproliferative neoplasms and function of novel mutations].

Kirito K

[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 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."