Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.D425N
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PTPN11

NM_002834.5:p.D425N

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 › Clinical_Variants

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

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

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

Krauthammer M et al.

Nature Genetics, 2015

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
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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."