Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.A461G
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PTPN11

NM_002834.5:p.A461G

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

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

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc6.xlsx › Sheet_1

Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.

Lucas CG et al.

Neuro-oncology, 2025

39560080 (PubMed )
Supplement: noae214_suppl_supplementary_tables.xlsx › Table_S5

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

Identification of a putative molecular subtype of adult-type diffuse astrocytoma with recurrent MAPK pathway alterations.

Sievers P et al.

Acta Neuropathologica, 2024

39026106 (PubMed )
Supplement: 401_2024_2766_MOESM1_ESM.xlsx › Supplementary_Table_3

All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.

Faas BHW et al.

Prenatal Diagnosis, 2023

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

Welsh CL et al.

Advances in Cancer Research, 2023

Concurrent Mutations in SF3B1 and PHF6 in Myeloid Neoplasms.

Zuo Z et al.

Biology, 2022

36671709 (PubMed )
Supplement: biology-12-00013-s001.zip › biology-2072813-supplementary.xlsx › Suppl_tbl_Vaf

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.

Robinson PS et al.

Nature Communications, 2022

35803914 (PubMed )
Supplement: 41467_2022_31341_MOESM4_ESM.xlsx › Supplementary_Data_Table_3

The longitudinal dynamics and natural history of clonal haematopoiesis.

Fabre MA et al.

Nature, 2022

35650444 (PubMed )
Supplement: 41586_2022_4785_MOESM13_ESM.xlsx › AML_site_dNdS

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

Mutations predictive of hyperactive Ras signaling correlate with inferior survival across high-risk pediatric acute leukemia.

Ney GM et al.

Translational Pediatrics, 2020

Classification of gastric cancer by EBV status combined with molecular profiling predicts patient prognosis.

He CY et al.

Clinical and Translational Medicine, 2020

32508039 (PubMed )
Supplement: CTM2-10-353-s003.xlsx › Table_S3

Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.

Jiang L et al.

American Journal of Cancer Research, 2020

Clonal evolution patterns in acute myeloid leukemia with NPM1 mutation.

Cocciardi S et al.

Nature Communications, 2019

31048683 (PubMed )
Supplement: 41467_2019_9745_MOESM3_ESM.xlsx › Tabelle1

The evolutionary landscape of chronic lymphocytic leukemia treated with ibrutinib targeted therapy.

Landau DA et al.

Nature Communications, 2017

29259203 (PubMed )
Supplement: 41467_2017_2329_MOESM4_ESM.xlsx › Supplementary_Data_2

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

Molecular Neuropathology in Practice: Clinical Profiling and Integrative Analysis of Molecular Alterations in Glioblastoma.

Nasrallah MP et al.

Academic Pathology, 0

31206012 (PubMed )
Supplement: Supplementary_Table_2__1_.xlsx › table_egfrviii_and_solid_panel_
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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."