Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.Q510L
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PTPN11

NM_002834.5:p.Q510L

Associated Papers

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

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

Primary Cutaneous Neoplasm With Rhabdomyosarcomatous Differentiation and a Melanoma-Like Mutational Landscape.

Weigelt MA et al.

Journal of Cutaneous Pathology, 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

39091798 (PubMed )
Supplement: media-6.xlsx › ClinVar_annotated

Multi-scale signaling and tumor evolution in high-grade gliomas.

Liu J et al.

Cancer Cell, 2024

The RTK-RAS signaling pathway is enriched in patients with rare acute myeloid leukemia harboring t(16;21)(p11;q22)/FUS::ERG.

Lai A et al.

Blood Science (baltimore, Md.), 2024

38742238 (PubMed )
Supplement: bs9-6-e00188-s001.pdf

Impact of gene alterations on clinical outcome in young adults with myelodysplastic syndromes.

Konishi T et al.

Scientific Reports, 2023

36788335 (PubMed )
Supplement: 41598_2023_29794_MOESM2_ESM.xlsx › Supplementary_Table_2

Clonal evolution in tyrosine kinase inhibitor-resistance: lessons from in vitro-models.

Kaehler M et al.

Frontiers in Oncology, 2023

Compartment-specific mutational landscape of clonal hematopoiesis.

Hartmann L et al.

Leukemia, 2022

36131041 (PubMed )
Supplement: 41375_2022_1700_MOESM1_ESM.pdf

Immunosuppression and outcomes in adult patients with de novo acute myeloid leukemia with normal karyotypes.

Ferraro F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

34845035 (PubMed )
Supplement: pnas.2116427118.sd02.xlsx › mutations.2021.02.24

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_3

The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms.

Schwartz JR et al.

Nature Communications, 2021

33579957 (PubMed )
Supplement: 41467_2021_21255_MOESM24_ESM.xlsx › Sup._Data_21_Serial_Sequencing

Analytical and Potential Clinical Performance of Oncomine Myeloid Research Assay for Myeloid Neoplasms.

Park J et al.

Molecular Diagnosis & Therapy, 2020

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc4.xlsx › A__TCGA_hotspots

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Drivers-not-HR

3D spatial organization and network-guided comparison of mutation profiles in Glioblastoma reveals similarities across patients.

Dincer C et al.

Plos Computational Biology, 2019

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

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

Genetic Mutations in a Patient with Chronic Myeloid Leukemia Showing Blast Crisis 10 Years After Presentation.

Sklarz LM et al.

Anticancer Research, 2018

Integrative genetic analysis of mouse and human AML identifies cooperating disease alleles.

Hatlen MA et al.

The Journal of Experimental Medicine, 2016

26666262 (PubMed )
Supplement: supp_jem.20150524_JEM_20150524_sm.pdf

Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.

Krauthammer M et al.

Nature Genetics, 2015

Human germline and pan-cancer variomes and their distinct functional profiles.

Pan Y et al.

Nucleic Acids Research, 2014

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

Mutational landscape and significance across 12 major cancer types.

Kandoth C et al.

Nature, 2013

24132290 (PubMed )
Supplement: 41586_2013_BFnature12634_MOESM82_ESM.zip › nature12634-s1 › Supplementary_Table_5.xlsx › S_Table_5
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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."