Varaico: Literature-Extracted Genetic Variants

Gene:GDI1
Variant:p.L92P
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GDI1

NM_001493.3:p.L92P

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_cSrc

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_cSrc

Impaired αGDI Function in the X-Linked Intellectual Disability: The Impact on Astroglia Vesicle Dynamics.

Potokar M et al.

Molecular Neurobiology, 2017

An extended set of yeast-based functional assays accurately identifies human disease mutations.

Sun S et al.

Genome Research, 2016

Protein sector analysis for the clustering of disease-associated mutations.

Guevara-Coto J et al.

Bmc Genomics, 2014

Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.

Strobl-Wildemann G et al.

American Journal of Medical Genetics. Part A, 2011

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

de Brouwer AP et al.

Human Mutation, 2007

Geranylgeranyl switching regulates GDI-Rab GTPase recycling.

An Y et al.

Structure (london, England : 1993), 2003

Mutations in GDI1 are responsible for X-linked non-specific mental retardation.

D'Adamo P et al.

Nature Genetics, 1998

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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."