Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.R138Q
Back to variants list

PTPN11

NM_002834.5:p.R138Q

Associated Papers

Proximity-labeling proteomics reveals remodeled interactomes and altered localization of pathogenic SHP2 variants.

van Vlimmeren AE et al.

Embo Reports, 2025

Proximity-labeling proteomics reveals remodeled interactomes and altered localization of pathogenic SHP2 variants.

van Vlimmeren AE et al.

Biorxiv : the Preprint Server for Biology, 2025

Multiplexed single-cell transcriptomics reveals diverse phenotypic outcomes for pathogenic SHP2 variants.

van Vlimmeren AE et al.

Biorxiv : the Preprint Server for Biology, 2025

Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.

Jiang Z et al.

Nature Communications, 2025

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

The pathogenic T42A mutation in SHP2 rewires the interaction specificity of its N-terminal regulatory domain.

van Vlimmeren AE et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

The pathogenic T42A mutation in SHP2 rewires the interaction specificity of its N-terminal regulatory domain.

van Vlimmeren AE et al.

Biorxiv : the Preprint Server for Biology, 2024

Therapeutic potential of targeting SHP2 in human developmental disorders and cancers.

Shen D et al.

European Journal of Medicinal Chemistry, 2020

Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Kiel C et al.

Molecular Systems Biology, 2014

24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies

Protein tyrosine phosphatase SHP2/PTPN11 mistargeting as a consequence of SH2-domain point mutations associated with Noonan Syndrome and leukemia.

Müller PJ et al.

Journal of Proteomics, 2013

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

Aoki Y et al.

Human Mutation, 2008

Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia.

Bentires-Alj M et al.

Cancer Research, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."