Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.V45L
Back to variants list

PTPN11

NM_002834.5:p.V45L

Associated Papers

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 › COSMIC_annotated

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

Tyrosine phosphatase PTPN11/SHP2 in solid tumors - bull's eye for targeted therapy?

Chen X et al.

Frontiers in Immunology, 2024

Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein-Protein Interactions.

Bobone S et al.

Journal of Medicinal Chemistry, 2021

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.

Kennedy AL et al.

Nature Communications, 2021

33637765 (PubMed )
Supplement: 41467_2021_21588_MOESM1_ESM.pdf

Panel-based next-generation sequencing facilitates the characterization of childhood acute myeloid leukemia in clinical settings.

Ishida H et al.

Biomedical Reports, 2020

Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience.

Marks LJ et al.

Frontiers in Pediatrics, 2017

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

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."