Varaico: Literature-Extracted Genetic Variants

Gene:IMPDH2
Variant:p.R224P
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IMPDH2

NM_000884.3:p.R224P

Associated Papers

Rationally-Stabilized Inhibited State of IMPDH Proposes a Novel Targeting Approach Involving Its Cross-Domain and Assembly Suppression.

Sattari S et al.

Molecular Biotechnology, 2025

IMPDH dysregulation in disease: a mini review.

Burrell AL et al.

Biochemical Society Transactions, 2022

Different characteristics and nucleotide binding properties of inosine monophosphate dehydrogenase (IMPDH) isoforms.

Thomas EC et al.

Plos One, 2012

Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene.

Kozma P et al.

American Journal of Ophthalmology, 2005

Autosomal dominant retinitis pigmentosa mutations in inosine 5'-monophosphate dehydrogenase type I disrupt nucleic acid binding.

Mortimer SE et al.

The Biochemical Journal, 2005

On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa.

Aherne A et al.

Human Molecular Genetics, 2004

Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP.

Daiger SP et al.

Advances in Experimental Medicine and Biology, 2003

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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."