Varaico: Literature-Extracted Genetic Variants

Gene:RASA1
Variant:p.R427Q
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RASA1

NM_002890.3:p.R427Q

Associated Papers

Clinically observed RASA1 missense mutants exhibit diverse RasGAP protein behaviors.

Paul ME et al.

Biorxiv : the Preprint Server for Biology, 2025

Mutational spectrum of syndromic genes in sporadic brain arteriovenous malformation.

Wang K et al.

Chinese Neurosurgical Journal, 2022

Distinct Molecular Landscape of Epstein-Barr Virus Associated Pulmonary Lymphoepithelioma-Like Carcinoma Revealed by Genomic Sequencing.

Chau SL et al.

Cancers, 2020

32726920 (PubMed )
Supplement: cancers-12-02065-s001.zip › cancers-870865-supplementary_V2 › Supplementary_Tables_S1-S10.xlsx › Table_S7

Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM).

Wang K et al.

Journal of Medical Genetics, 2018

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."