Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.W428R
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MEN1

NM_000244.4:p.W428R

Associated Papers

Hsp70 incompletely disaggregates misfolded K488X-menin to promote tumourigenesis in a family with multiple endocrine neoplasia type 1.

Zeng Z et al.

Cellular Signalling, 2025

Well-differentiated G1 and G2 pancreatic neuroendocrine tumors: a meta-analysis of published expanded DNA sequencing data.

Andersen KØ et al.

Frontiers in Endocrinology, 2024

38868744 (PubMed )
Supplement: DataSheet_1.docx

Multi-omics analyses of MEN1 missense mutations identify disruption of menin-MLL and menin-JunD interactions as critical requirements for molecular pathogenicity.

Dreijerink KMA et al.

Epigenetics & Chromatin, 2022

35941657 (PubMed )
Supplement: 13072_2022_461_MOESM5_ESM.xlsx › Database_van_mutaties

Clinical aspects of multiple endocrine neoplasia type 1.

Al-Salameh A et al.

Nature Reviews. Endocrinology, 2021

Integrated Whole-Exome and Transcriptome Sequencing of Sporadic Parathyroid Adenoma.

Hu Y et al.

Frontiers in Endocrinology, 2021

A Novel Germline c.1267T>A MEN1 Mutation in MEN1 Family-from Phenotype to Gene and Back.

Gierlikowski W et al.

Genes, 2020

Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.

Marini F et al.

Endocrine, 2018

Impaired transforming growth factor-β (TGF-β) transcriptional activity and cell proliferation control of a menin in-frame deletion mutant associated with multiple endocrine neoplasia type 1 (MEN1).

Canaff L et al.

The Journal of Biological Chemistry, 2012

Menin missense mutants encoded by the MEN1 gene that are targeted to the proteasome: restoration of expression and activity by CHIP siRNA.

Canaff L et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients.

Cebrián A et al.

Journal of Medical Genetics, 2003

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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."