Varaico: Literature-Extracted Genetic Variants

Gene:UFSP2
Variant:p.Y290H
Back to variants list

UFSP2

NM_018359.5:p.Y290H

Associated Papers

Studies on the functional role of UFMylation in cells (Review).

Qin R et al.

Molecular Medicine Reports, 2025

A guide to UFMylation, an emerging posttranslational modification.

Millrine D et al.

The Febs Journal, 2023

Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco.

Mattern L et al.

Bone Reports, 2023

A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy.

Ni M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Ribosomal protein RPL26 is the principal target of UFMylation.

Walczak CP et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.

Di Rocco M et al.

Clinical Genetics, 2018

Structural basis for Ufm1 recognition by UfSP.

Kim KH et al.

Febs Letters, 2018

Developmental dysplasia of the hip: usefulness of next generation genomic tools for characterizing the underlying genes - a mini review.

Basit S et al.

Clinical Genetics, 2016

Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia.

Watson CM et al.

South African Medical Journal = Suid-afrikaanse Tydskrif Vir Geneeskunde, 2015

The ubiquitin-fold modifier 1 (Ufm1) cascade of Caenorhabditis elegans.

Hertel P et al.

The Journal of Biological Chemistry, 2013

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."