Varaico: Literature-Extracted Genetic Variants

Gene:RASA1
Variant:p.R707C
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RASA1

NM_002890.3:p.R707C

Associated Papers

Clinically observed RASA1 missense mutants exhibit diverse RasGAP protein behaviors.

Paul ME et al.

Biorxiv : the Preprint Server for Biology, 2025

The C2 domain augments Ras GTPase-activating protein catalytic activity.

Paul ME et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease.

Zeng X et al.

Trends in Molecular Medicine, 2019

Human genetics and molecular mechanisms of vein of Galen malformation.

Duran D et al.

Journal of Neurosurgery. Pediatrics, 2018

Fetal MRI demonstrating vein of Galen malformations in two successive pregnancies--a previously unreported occurrence.

Kwong Y et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2015

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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."