Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.D61A
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PTPN11

NM_002834.5:p.D61A

Associated Papers

Unveiling splicing disruptions due to common somatic variants in acute myeloid leukemia.

Morote-Faubel M et al.

Human Genomics, 2025

41189001 (PubMed )
Supplement: 40246_2025_842_MOESM1_ESM.pdf

SFX-01 is therapeutic against myeloproliferative disorders caused by activating mutations in Shp2.

Cho HJ et al.

Embo Molecular Medicine, 2025

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

Persistent postremission clonal hematopoiesis shapes the relapse trajectories of acute myeloid leukemia.

Chow RD et al.

Blood Advances, 2025

39938015 (PubMed )
Supplement: BLOODA_ADV-2024-015149-mmc2.xlsx › S7

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 › COSMIC_annotated

Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumoronly versus paired tumor-normal sequencing.

Newman H et al.

Haematologica, 2024

38385299 (PubMed )
Supplement: 2023_284855_NEWMAN_SUPPL.pdf

Early drivers of clonal hematopoiesis shape the evolutionary trajectories of de novo acute myeloid leukemia.

Chow RD et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39252918 (PubMed )
Supplement: media-1.xlsx › S6

UBTF tandem duplications in pediatric myelodysplastic syndrome and acute myeloid leukemia: implications for clinical screening and diagnosis.

Barajas JM et al.

Haematologica, 2024

38426285 (PubMed )
Supplement: 2023_284683_BARAJAS_SUPPL.pdf

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

Liu Y et al.

Cellular and Molecular Life Sciences : Cmls, 2023

UBTF Tandem Duplications in Pediatric MDS and AML: Implications for Clinical Screening and Diagnosis.

Barajas JM et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

38014207 (PubMed )
Supplement: media-5.xlsx › Sheet1

Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.

McCarter JGW et al.

Blood Advances, 2023

37142255 (PubMed )
Supplement: BLOODA_ADV-2023-009675-mmc1.xlsx › supplemental_Table_2-Mutations

Setting sail: Maneuvering SHP2 activity and its effects in cancer.

Welsh CL et al.

Advances in Cancer Research, 2023

Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality.

Eboreime J et al.

Human Mutation, 2022

PTPN11 c.853T>C (p.Phe285Leu) mutation in Noonan syndrome with chylothorax.

Watanabe D et al.

Nagoya Journal of Medical Science, 2022

Effects of Noonan Syndrome-Germline Mutations on Mitochondria and Energy Metabolism.

Bajia D et al.

Cells, 2022

Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Liu T et al.

Nature Communications, 2022

35347147 (PubMed )
Supplement: 41467_2022_29336_MOESM8_ESM.xlsx › Sheet1

Allosteric inhibition of SHP2 uncovers aberrant TLR7 trafficking in aggravating psoriasis.

Zhu Y et al.

Embo Molecular Medicine, 2022

Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.

Tran TH et al.

Blood Advances, 2022

34933343 (PubMed )
Supplement: advancesADV2021005634-suppl1.xlsx › S3_Mutation_details

Modeling (not so) rare developmental disorders associated with mutations in the protein-tyrosine phosphatase SHP2.

Solman M et al.

Frontiers in Cell and Developmental Biology, 2022

Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations

Antić Ž et al.

Haematologica, 2021

33147938 (PubMed )
Supplement: 2020_259226_ANTIC_SUPPL_TABLES.xlsx › Supplementary_Table_14

SHP2-Mediated Inhibition of DNA Repair Contributes to cGAS-STING Activation and Chemotherapeutic Sensitivity in Colon Cancer.

Wei B et al.

Cancer Research, 2021

Phosphatase-independent functions of SHP2 and its regulation by small molecule compounds.

Guo W et al.

Journal of Pharmacological Sciences, 2020

Clonal evolution of acute myeloid leukemia revealed by high-throughput single-cell genomics.

Morita K et al.

Nature Communications, 2020

33087716 (PubMed )
Supplement: 41467_2020_19119_MOESM1_ESM.pdf

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

Disrupting phosphatase SHP2 in macrophages protects mice from high-fat diet-induced hepatic steatosis and insulin resistance by elevating IL-18 levels.

Liu W et al.

The Journal of Biological Chemistry, 2020

Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.

Chinton J et al.

Archivos Argentinos De Pediatria, 2019

Clonal evolution patterns in acute myeloid leukemia with NPM1 mutation.

Cocciardi S et al.

Nature Communications, 2019

31048683 (PubMed )
Supplement: 41467_2019_9745_MOESM4_ESM.xlsx › Tabelle1

Age-Dependent De Novo Mutations During Spermatogenesis and Their Consequences.

Cioppi F et al.

Advances in Experimental Medicine and Biology, 2019

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.

Maher GJ et al.

Genome Research, 2018

The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.

Tajan M et al.

Endocrine Reviews, 2018

Cellular stressors contribute to the expansion of hematopoietic clones of varying leukemic potential.

Wong TN et al.

Nature Communications, 2018

29386642 (PubMed )
Supplement: 41467_2018_2858_MOESM8_ESM.xlsx › TAML-TMDS

PREDICTING SIGNIFICANCE OF UNKNOWN VARIANTS IN GLIAL TUMORS THROUGH SUB-CLASS ENRICHMENT.

Fichtenholtz AM et al.

Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing, 2016

SH2 domain-containing protein tyrosine phosphatase 2 and focal adhesion kinase protein interactions regulate pulmonary endothelium barrier function.

Chichger H et al.

American Journal of Respiratory Cell and Molecular Biology, 2015

Diminished functional role and altered localization of SHP2 in non-small cell lung cancer cells with EGFR-activating mutations.

Furcht CM et al.

Oncogene, 2013

Protein tyrosine phosphatase SHP-2: a proto-oncogene product that promotes Ras activation.

Matozaki T et al.

Cancer Science, 2009

Genetic evaluation and management of fetal chylothorax: review and insights from a case of Noonan syndrome.

Chen CH et al.

Lymphology, 2009

Noonan syndrome-associated SHP-2/Ptpn11 mutants enhance SIRPalpha and PZR tyrosyl phosphorylation and promote adhesion-mediated ERK activation.

Eminaga S et al.

The Journal of Biological Chemistry, 2008

Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.

Keilhack H et al.

The Journal of Biological Chemistry, 2005

Noonan syndrome type I with PTPN11 3 bp deletion: structure-function implications.

Lee WH et al.

Proteins, 2005

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

Niihori T et al.

Journal of Human Genetics, 2005

Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation.

Araki T et al.

Nature Medicine, 2004

Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation.

Fragale A et al.

Human Mutation, 2004

SHP-2 and myeloid malignancies.

Tartaglia M et al.

Current Opinion in Hematology, 2004

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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."