Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.F41L
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PTPN11

NM_002834.5:p.F41L

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-3.xlsx › SHP2-FL_cSrc-KD_column

Redox Regulation of a Gain-of-Function Mutation (N308D) in SHP2 Noonan Syndrome.

Machado LESF et al.

Acs Omega, 2017

Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11).

Qiu W et al.

Bmc Structural Biology, 2014

Structural mechanism associated with domain opening in gain-of-function mutations in SHP2 phosphatase.

Darian E et al.

Proteins, 2011

Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2.

Bocchinfuso G et al.

Proteins, 2007

Crystal structure of the tyrosine phosphatase SHP-2.

Hof P et al.

Cell, 1998

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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."