Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.A176P
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MEN1

NM_001370259.2:p.A176P

Associated Papers

Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.

Sukrithan V et al.

Journal of the National Comprehensive Cancer Network : Jnccn, 2025

40588228 (PubMed )
Supplement: jnccn240295SupplementaryData1.pdf

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

Alternative splicing generates isoform diversity in MEN1.

Ramachandran A et al.

Endocrine Oncology (bristol, England), 2024

39649118 (PubMed )
Supplement: supplementary_table_3.xlsx › Supplementary_Table_3

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

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

MEN1 is a melanoma tumor suppressor that preserves genomic integrity by stimulating transcription of genes that promote homologous recombination-directed DNA repair.

Fang M et al.

Molecular and Cellular Biology, 2013

The embryonic transcription factor Hlxb9 is a menin interacting partner that controls pancreatic β-cell proliferation and the expression of insulin regulators.

Shi K et al.

Endocrine-related Cancer, 2013

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

Menin promotes the Wnt signaling pathway in pancreatic endocrine cells.

Chen G et al.

Molecular Cancer Research : Mcr, 2008

Menin, a tumor suppressor, associates with nonmuscle myosin II-A heavy chain.

Obungu VH et al.

Oncogene, 2003

The 32-kilodalton subunit of replication protein A interacts with menin, the product of the MEN1 tumor suppressor gene.

Sukhodolets KE et al.

Molecular and Cellular Biology, 2003

Molecular and genetic mechanisms of tumorigenesis in multiple endocrine neoplasia type-1.

Guo SS et al.

Molecular Endocrinology (baltimore, Md.), 2001

Tumor suppressor loss in pituitary tumors.

Alexander JM

Brain Pathology (zurich, Switzerland), 2001

The MEN1 gene and associated diseases: an update.

Tsukada T et al.

Endocrine Pathology, 2001

Multiple endocrine neoplasia type 1.

Pannett AA et al.

Endocrine-related Cancer, 1999

Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription.

Agarwal SK et al.

Cell, 1999

Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 (MEN1).

Marx SJ et al.

Journal of Internal Medicine, 1998

Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families.

Agarwal SK et al.

Human Mutation, 1998

Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.

Agarwal SK et al.

Human Molecular Genetics, 1997

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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."