Varaico: Literature-Extracted Genetic Variants

Gene:AAGAB
Variant:p.V139I
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AAGAB

NM_024666.5:p.V139I

Associated Papers

Structural basis of pseudoGTPase-mediated protein-protein interactions.

Wang B et al.

Structure (london, England : 1993), 2025

Structural basis of pseudoGTPase-mediated protein-protein interactions.

Wang B et al.

Biorxiv : the Preprint Server for Biology, 2024

Only plantar lesion of punctate palmoplantar keratoderma with a novel missense mutation in the AAGAB gene: Two Japanese familial case reports and review of reported mutations.

Hasegawa A et al.

The Journal of Dermatology, 2021

High-frequency actionable pathogenic exome variants in an average-risk cohort.

Rego S et al.

Cold Spring Harbor Molecular Case Studies, 2018

30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_3.xlsx › Sheet1

Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.

Giehl KA et al.

Acta Dermato-venereologica, 2016

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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."