Varaico: Literature-Extracted Genetic Variants

Gene:PMVK
Variant:p.R110Q
Back to variants list

PMVK

NM_006556.4:p.R110Q

Associated Papers

The evolving genetic landscape of ILVEN: A comprehensive review.

Aghajani M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2026

Update on new autoinflammatory disorders from the 2024 Pediatric Rheumatology European Society Congress.

Schulert GS

Pediatric Rheumatology Online Journal, 2025

A novel homozygous variant in PMVK is associated with enhanced IL1β secretion and a hyper-IgD syndrome-like phenotype.

Jairaman A et al.

Clinical Genetics, 2024

Porokeratoses-A Comprehensive Review on the Genetics and Metabolomics, Imaging Methods and Management of Common Clinical Variants.

Pietkiewicz P et al.

Metabolites, 2023

Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy.

Atzmony L et al.

Journal of the American Academy of Dermatology, 2020

Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis.

Atzmony L et al.

Jama Dermatology, 2019

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."