Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.K882E
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JAK2

NM_004972.4:p.K882E

Associated Papers

Centrosomal JAK2 Tyrosine Kinase Regulates Primary Cilia Length, Cell Proliferation, and Cilia Orientation During Cell Migration.

Karki G et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2026

The SH2 domain and kinase activity of JAK2 target JAK2 to centrosome and regulate cell growth and centrosome amplification.

Shahi A et al.

Plos One, 2022

Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function.

Gruber CN et al.

Immunity, 2020

32750333 (PubMed )
Supplement: mmc1.pdf

JAK2 regulates mismatch repair protein-mediated epigenetic alterations in response to oxidative damage.

Ding N et al.

Environmental and Molecular Mutagenesis, 2019

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant.

Boisson-Dupuis S et al.

Science Immunology, 2018

Accumulation of JAK activation loop phosphorylation is linked to type I JAK inhibitor withdrawal syndrome in myelofibrosis.

Tvorogov D et al.

Science Advances, 2018

SH2B1 in β-cells promotes insulin expression and glucose metabolism in mice.

Chen Z et al.

Molecular Endocrinology (baltimore, Md.), 2014

Identification of steroid-sensitive gene-1/Ccdc80 as a JAK2-binding protein.

O'Leary EE et al.

Molecular Endocrinology (baltimore, Md.), 2013

Identification of a redox-sensitive switch within the JAK2 catalytic domain.

Smith JK et al.

Free Radical Biology & Medicine, 2012

Janus kinase 2--a novel negative regulator of estrogen receptor α function.

Gupta N et al.

Cellular Signalling, 2012

Leptin stimulates both JAK2-dependent and JAK2-independent signaling pathways.

Jiang L et al.

The Journal of Biological Chemistry, 2008

Activation loop tyrosines allow the JAK2(V617F) mutant to attain hyperactivation.

Kundrapu K et al.

Cell Biochemistry and Biophysics, 2008

Multiple cysteine residues are implicated in Janus kinase 2-mediated catalysis.

Mamoon NM et al.

Biochemistry, 2007

JAK kinases promote invasiveness in VHL-mediated renal cell carcinoma by a suppressor of cytokine signaling-regulated, HIF-independent mechanism.

Wu KL et al.

American Journal of Physiology. Renal Physiology, 2007

SH2B1 enhances leptin signaling by both Janus kinase 2 Tyr813 phosphorylation-dependent and -independent mechanisms.

Li Z et al.

Molecular Endocrinology (baltimore, Md.), 2007

Regulation of signal transducer and activator of transcription 1 (STAT1) and STAT1-dependent genes by RET/PTC (rearranged in transformation/papillary thyroid carcinoma) oncogenic tyrosine kinases.

Hwang ES et al.

Molecular Endocrinology (baltimore, Md.), 2004

A phenylalanine zipper mediates APS dimerization.

Dhe-Paganon S et al.

Nature Structural & Molecular Biology, 2004

Mutation of glutamic acid residue 1046 abolishes Jak2 tyrosine kinase activity.

VonDerLinden D et al.

Molecular and Cellular Biochemistry, 2002

Negative regulation of growth hormone receptor/JAK2 signaling by signal regulatory protein alpha.

Stofega MR et al.

The Journal of Biological Chemistry, 2000

Cytokine receptor-independent, constitutively active variants of STAT5.

Berchtold S et al.

The Journal of Biological Chemistry, 1997

A JAK1/JAK2 chimera can sustain alpha and gamma interferon responses.

Kohlhuber F et al.

Molecular and Cellular Biology, 1997

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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."