Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.R32K
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PTPN11

NM_002834.5:p.R32K

Associated Papers

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.

Sierant MC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40127276 (PubMed )
Supplement: pnas.2420343122.sapp.pdf

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-3.xlsx › SHP2-FL_cSrc-KD_column

Myeloproliferative disorder in a patient with RIT1-associated Noonan syndrome: Case report and literature review.

Suzuki K et al.

Pediatric Blood & Cancer, 2024

Recent advances in RASopathies.

Aoki Y et al.

Journal of Human Genetics, 2016

Prognostic, therapeutic, and mechanistic implications of a mouse model of leukemia evoked by Shp2 (PTPN11) mutations.

Mohi MG et al.

Cancer Cell, 2005

Recruitment of the protein-tyrosine phosphatase SHP-2 to the C-terminal tyrosine of the prolactin receptor and to the adaptor protein Gab2.

Ali S et al.

The Journal of Biological Chemistry, 2000

Adapter function of protein-tyrosine phosphatase 1D in insulin receptor/insulin receptor substrate-1 interaction.

Kharitonenkov A et al.

The Journal of Biological Chemistry, 1995

Activation of the SH2-containing protein tyrosine phosphatase, SH-PTP2, by phosphotyrosine-containing peptides derived from insulin receptor substrate-1.

Sugimoto S et al.

The Journal of Biological Chemistry, 1994

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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."