Varaico: Literature-Extracted Genetic Variants

Gene:SPRED1
Variant:p.R24Q
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SPRED1

NM_152594.3:p.R24Q

Associated Papers

Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.

Hirata Y et al.

The Journal of Biological Chemistry, 2016

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

Review and update of SPRED1 mutations causing Legius syndrome.

Brems H et al.

Human Mutation, 2012

The SPRED1 Variants Repository for Legius Syndrome.

Sumner K et al.

G3 (bethesda, Md.), 2011

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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."