Varaico: Literature-Extracted Genetic Variants

Gene:RAC1
Variant:p.Y32H
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RAC1

NM_006908.5:p.Y32H

Associated Papers

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM6_ESM.xlsx › sitednds_oral

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.

Brünger T et al.

Genome Biology, 2025

40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1

Diverse Clinical Presentation of RAC1-Related Intellectual Developmental Disorder.

Upadia J et al.

American Journal of Medical Genetics. Part A, 2025

Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.

Priolo M et al.

European Journal of Human Genetics : Ejhg, 2023

Ichthyosiform changes in a patient with RAC1 mutation.

Haugh IM et al.

Pediatric Dermatology, 2021

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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."