Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.L262F
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PTPN11

NM_002834.5:p.L262F

Associated Papers

Understanding Molecular Basis of PTPN11-Related Diseases.

Um S et al.

Arxiv, 2025

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

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Grb2

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

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Grb2

From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia

Fernandes Pineda M et al.

Biomedica : Revista Del Instituto Nacional De Salud, 2024

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-4.xlsx › SHP2-PTP_cSrc-KD_column

Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.

Kim J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39802765 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_2

Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.

Küçükosmanoglu A et al.

Molecular Oncology, 2024

38757376 (PubMed )
Supplement: MOL2-18-2407-s001.xlsx › 1B_Cases_composite_mutations

Non-canonical FLT3 alterations reveal novel germline FLT3 variants leading to somatic gene rescue mutations.

Gordon J et al.

Blood Cancer Journal, 2024

39080258 (PubMed )
Supplement: 41408_2024_1104_MOESM2_ESM.docx

SHP2 clinical phenotype, cancer, or RASopathies, can be predicted by mutant conformational propensities.

Liu Y et al.

Cellular and Molecular Life Sciences : Cmls, 2023

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

Wang N et al.

Bmc Gastroenterology, 2020

PTPN11 Plays Oncogenic Roles and Is a Therapeutic Target for BRAF Wild-Type Melanomas.

Hill KS et al.

Molecular Cancer Research : Mcr, 2019

30355677 (PubMed )
Supplement: 15417786mcr180777-sup-205842_2_supp_5055633_pfqw03.pdf

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.

Pannone L et al.

Human Mutation, 2017

Health and quality of life in adults with Noonan syndrome.

Binder G et al.

The Journal of Pediatrics, 2012

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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."