Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.Y62C
Back to variants list

PTPN11

NM_002834.5:p.Y62C

Associated Papers

Understanding Molecular Basis of PTPN11-Related Diseases.

Um S et al.

Arxiv, 2025

41479460 (PubMed )
Supplement: NIHPP2511.11860v1-supplement-1.pdf

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

Jiang Z et al.

Nature Communications, 2025

40595497 (PubMed )
Supplement: 41467_2025_60641_MOESM5_ESM.xlsx › Clinical_Variants

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-6.xlsx › Clinical_Variants

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S6.xlsx › High_Confidence_SNVs

Screening and molecular characterization of lethal mutations of human homogentisate 1, 2 dioxigenase.

Sen Gupta PS et al.

Journal of Biomolecular Structure & Dynamics, 2021

Recent Advances of SHP2 Inhibitors in Cancer Therapy: Current Development and Clinical Application.

Yuan X et al.

Journal of Medicinal Chemistry, 2020

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

Shen D et al.

European Journal of Medicinal Chemistry, 2020

A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy.

Wang N et al.

Bmc Gastroenterology, 2020

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

Jongmans MC et al.

European Journal of Human Genetics : Ejhg, 2011

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

Aoki Y et al.

Human Mutation, 2008

Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors.

Mutesa L et al.

Cancer Genetics and Cytogenetics, 2008

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.

Niihori T et al.

Journal of Human Genetics, 2005

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."