Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.Y279F
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PTPN11

NM_002834.5:p.Y279F

Associated Papers

Deep mutational scanning of a multi-domain signaling protein reveals mechanisms of regulation and pathogenicity.

Jiang Z et al.

Biorxiv : the Preprint Server for Biology, 2024

39091798 (PubMed )
Supplement: media-4.xlsx › SHP2-PTP_cSrc-KD_column

SHP2 as a primordial epigenetic enzyme expunges histone H3 pTyr-54 to amend androgen receptor homeostasis.

Chouhan S et al.

Nature Communications, 2024

SHP-2 is a novel target of Abl kinases during cell proliferation.

Mitra S et al.

Journal of Cell Science, 2008

Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.

Martinelli S et al.

Human Molecular Genetics, 2008

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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."