Varaico: Literature-Extracted Genetic Variants

Gene:PMVK
Variant:p.R138*
Back to variants list

PMVK

NM_006556.4:p.R138*

Associated Papers

Germline and somatic second-hit changes in porokeratosis: comprehensive variant spectrum and genotype-phenotype correlation analysis.

Yang Y et al.

The British Journal of Dermatology, 2026

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

A Novel PMVK Variant Associated with Familial Porokeratosis.

Zhang W et al.

Human Heredity, 2023

A preliminary study of peripheral T-cell subsets in porokeratosis patients with MVK or MVD variants.

Tao L et al.

Skin Health and Disease, 2022

Identification of candidates for driver oncogenes in scirrhous-type gastric cancer cell lines.

Sai E et al.

Cancer Science, 2019

31222839 (PubMed )
Supplement: CAS-110-2643-s002.xlsx › Table_S3

Updating and identifying a novel mutation in the PMVK gene in classic porokeratosis of Mibelli.

Song NJ et al.

Clinical and Experimental Dermatology, 2017

Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis.

Wang J et al.

Scientific Reports, 2016

Genomic variations of the mevalonate pathway in porokeratosis.

Zhang Z et al.

Elife, 2015

Mutation Analysis of the MVD Gene in a Chinese Family with Disseminated Superficial Actinic Porokeratosis and a Chinese Literature Review.

Qian W et al.

Indian Journal of Dermatology, 0

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."