Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.H587N
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JAK2

NM_004972.4:p.H587N

Associated Papers

Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry.

Gheybi K et al.

Nature Communications, 2025

Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases.

Hoffmann M et al.

Scientific Reports, 2025

39979591 (PubMed )
Supplement: 41598_2025_90788_MOESM2_ESM.docx

Insights into the role of JAK2-I724T variant in myeloproliferative neoplasms from a unique cohort of New Zealand patients.

Puli'uvea C et al.

Hematology (amsterdam, Netherlands), 2024

38197452 (PubMed )
Supplement: supplement_1.docx

Predisposing deleterious variants in the cancer-associated human kinases in the global populations.

Khan SA et al.

Plos One, 2024

38635549 (PubMed )
Supplement: pone.0298747.s003.xlsx › ExAC_deleterious_SNPs

Structural Analysis of Janus Tyrosine Kinase Variants in Hematological Malignancies: Implications for Drug Development and Opportunities for Novel Therapeutic Strategies.

Rodriguez Moncivais OJ et al.

International Journal of Molecular Sciences, 2023

Structural modeling of cytokine-receptor-JAK2 signaling complexes using AlphaFold Multimer.

Pogozheva ID et al.

Biorxiv : the Preprint Server for Biology, 2023

Genetic Background of Polycythemia Vera.

Regimbeau M et al.

Genes, 2022

Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.

Felicio PS et al.

Human Mutation, 2021

33326660 (PubMed )
Supplement: HUMU-42-290-s006.xlsx › Table_S4_-_VUS_identified_

Jak/STAT pathways in cytokine signaling and myeloproliferative disorders: approaches for targeted therapies.

Jatiani SS et al.

Genes & Cancer, 2010

Structural effects of clinically observed mutations in JAK2 exons 13-15: comparison with V617F and exon 12 mutations.

Lee TS et al.

Bmc Structural Biology, 2009

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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."