Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.P242S
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SH2B3

NM_005475.3:p.P242S

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

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1

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

ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.

Zhou Y et al.

Science Advances, 2023

37992168 (PubMed )
Supplement: sciadv.adg2263_tables_s1_to_s5.zip › adg2263_Table_S1.xlsx › Genomic_data

Frequency and characteristics of the JAK2 V617F mutation in 23 cerebral venous sinus thrombosis patients with thrombocytosis.

Ma Q

The Journal of International Medical Research, 2020

Genome-wide association study in a Korean population identifies six novel susceptibility loci for rheumatoid arthritis.

Kwon YC et al.

Annals of the Rheumatic Diseases, 2020

A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

Nassar AH et al.

British Journal of Cancer, 2020

31857723 (PubMed )
Supplement: 41416_2019_686_MOESM1_ESM.xlsx › S1.2_Overall_SNV_small_indels

Identification of germline and somatic mutations in pancreatic adenosquamous carcinoma using whole exome sequencing.

Ma H et al.

Cancer Biomarkers : Section a of Disease Markers, 2020

31958074 (PubMed )
Supplement: sj-xlsx-1-cbm-10.3233_cbm-190236.xlsx › Germline

Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid.

Miller AM et al.

Nature, 2019

30675060 (PubMed )
Supplement: NIHMS1516901-supplement-Sup_Table_5.xlsx › Matched_pair_analysis

Clinical significance of novel SH2B3 mutations in adult Chinese acute lymphoblastic leukemia patients.

Gu Y et al.

Leukemia Research, 2018

Mutation profiling by targeted sequencing of "triple-negative" essential thrombocythaemia patients.

Ju M et al.

British Journal of Haematology, 2018

The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing.

Yang F et al.

Oncotargets and Therapy, 2018

[LNK Gene Single Nucleotide Polymorphisms and Acute Leukemia Susceptibility].

Wu LS et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2016

[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."