Varaico: Literature-Extracted Genetic Variants

Gene:SHOC2
Variant:p.M173I
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SHOC2

NM_007373.4:p.M173I

Associated Papers

Structure of SHOC2-KRAS-PP1C complex reveals RAS isoform-specific determinants and insights into targeting complex assembly by RAS inhibitors.

Bonsor DA et al.

Nature Communications, 2026

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections.

Gulrajani NB et al.

Prenatal Diagnosis, 2025

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1

[Clinical characteristics analysis of children with Noonan-like syndrome with loose anagen hair].

Wang XO et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2025

FAT1 functions as an oncogenic driver in triple negative breast cancer through AKT pathway-driven effects on the matrisome.

Zhao P et al.

International Journal of Biological Sciences, 2025

40083689 (PubMed )
Supplement: ijbsv21p2201s2.xlsx › S7_BT549_control-FAT1_OE

The expression of congenital Shoc2 variants induces AKT-dependent crosstalk activation of the ERK1/2 pathway.

Wilson PG et al.

Human Molecular Genetics, 2024

The expression of congenital Shoc2 variants induces AKT-dependent feedback activation of the ERK1/2 pathway.

Wilson P et al.

Biorxiv : the Preprint Server for Biology, 2023

Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

Slavotinek A et al.

Npj Genomic Medicine, 2023

37872195 (PubMed )
Supplement: 41525_2023_382_MOESM1_ESM.pdf

Structural insights into the role of SHOC2-MRAS-PP1C complex in RAF activation.

Bonsor DA et al.

The Febs Journal, 2023

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

Slavotinek A et al.

Npj Genomic Medicine, 2023

37236975 (PubMed )
Supplement: 41525_2023_353_MOESM1_ESM.pdf

Structure of the SHOC2-MRAS-PP1C complex provides insights into RAF activation and Noonan syndrome.

Bonsor DA et al.

Nature Structural & Molecular Biology, 2022

Structural basis for SHOC2 modulation of RAS signalling.

Liau NPD et al.

Nature, 2022

Structure of the MRAS-SHOC2-PP1C phosphatase complex.

Hauseman ZJ et al.

Nature, 2022

Structure-function analysis of the SHOC2-MRAS-PP1C holophosphatase complex.

Kwon JJ et al.

Nature, 2022

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.

Motta M et al.

Human Molecular Genetics, 2022

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Schon KR et al.

Bmj (clinical Research Ed.), 2021

The role of USP7 in the Shoc2-ERK1/2 signaling axis and Noonan-like syndrome with loose anagen hair.

Wilson P et al.

Journal of Cell Science, 2021

The leucine-rich repeat signaling scaffolds Shoc2 and Erbin: cellular mechanism and role in disease.

Jang H et al.

The Febs Journal, 2021

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.

Sparks TN et al.

The New England Journal of Medicine, 2020

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy.

Motta M et al.

Human Mutation, 2019

SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis.

Young LC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks.

Brnich SE et al.

Human Mutation, 2018

A Novel SHOC2 Variant in Rasopathy.

Hannig V et al.

Human Mutation, 2014

The function of Shoc2: A scaffold and beyond.

Jang ER et al.

Communicative & Integrative Biology, 0

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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."