Varaico: Literature-Extracted Genetic Variants

Gene:SHOC2
Variant:p.H270Y
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SHOC2

NM_007373.4:p.H270Y

Associated Papers

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

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

Motta M et al.

Human Mutation, 2019

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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."