Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.R1652L
Back to variants list

RP1

NM_006269.2:p.R1652L

Associated Papers

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.

Kabir F et al.

Molecular Vision, 2016

A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration.

Song D et al.

The American Journal of Pathology, 2014

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.

Audo I et al.

Human Mutation, 2012

Differential pattern of RP1 mutations in retinitis pigmentosa.

Zhang X et al.

Molecular Vision, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."