Varaico: Literature-Extracted Genetic Variants

Gene:PRPF8
Variant:p.F2314L
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PRPF8

NM_006445.4:p.F2314L

Associated Papers

Retinitis pigmentosa-linked mutations impair the snRNA unwinding activity of SNRNP200 and reduce pre-mRNA binding of PRPF8.

Zimmann F et al.

Cellular and Molecular Life Sciences : Cmls, 2025

Research Progress on the Relationship Between PRPF8 and Cancer.

Huang G et al.

Current Issues in Molecular Biology, 2025

The Role of the U5 snRNP in Genetic Disorders and Cancer.

Wood KA et al.

Frontiers in Genetics, 2021

A Drosophila model to study retinitis pigmentosa pathology associated with mutations in the core splicing factor Prp8.

Stanković D et al.

Disease Models & Mechanisms, 2020

Variants in the PRPF8 Gene are Associated with Glaucoma.

Micheal S et al.

Molecular Neurobiology, 2018

Assembly of the U5 snRNP component PRPF8 is controlled by the HSP90/R2TP chaperones.

Malinová A et al.

The Journal of Cell Biology, 2017

Novel regulatory principles of the spliceosomal Brr2 RNA helicase and links to retinal disease in humans.

Mozaffari-Jovin S et al.

Rna Biology, 2014

Alternative splicing and retinal degeneration.

Liu MM et al.

Clinical Genetics, 2013

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.

Towns KV et al.

Human Mutation, 2010

Crystal structure of the C-terminal domain of splicing factor Prp8 carrying retinitis pigmentosa mutants.

Zhang L et al.

Protein Science : a Publication of the Protein Society, 2007

Structure of a multipartite protein-protein interaction domain in splicing factor prp8 and its link to retinitis pigmentosa.

Pena V et al.

Molecular Cell, 2007

Pre-mRNA splicing and retinitis pigmentosa.

Mordes D et al.

Molecular Vision, 2006

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

McKie AB et al.

Human Molecular Genetics, 2001

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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."