Varaico: Literature-Extracted Genetic Variants

Gene:P4HA2
Variant:p.E291K
Back to variants list

P4HA2

NM_001017974.2:p.E291K

Associated Papers

Identification of pathogenic variants for the development of ultra-long axial length in myopic children.

Zhu Y et al.

Plos One, 2025

Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance.

Wang Y et al.

The British Journal of Ophthalmology, 2023

36180177 (PubMed )
Supplement: bjo-2022-321511supp006.pdf

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

An overview of myopia genetics.

Cai XB et al.

Experimental Eye Research, 2019

Expanding the Phenotypic and Genotypic Landscape of Nonsyndromic High Myopia: A Cross-Sectional Study in 731 Chinese Patients.

Cai XB et al.

Investigative Ophthalmology & Visual Science, 2019

Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation.

Napolitano F et al.

Clinical Genetics, 2018

Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.

Guo H et al.

Molecular Autism, 2018

30564305 (PubMed )
Supplement: 13229_2018_247_MOESM5_ESM.xlsx › MIS30_

De novo genic mutations among a Chinese autism spectrum disorder cohort.

Wang T et al.

Nature Communications, 2016

27824329 (PubMed )
Supplement: ncomms13316-s5.xlsx › Supplementary_Data_4

Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia.

Guo H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

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."