Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.P12L
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MEN1

NM_001370259.2:p.P12L

Associated Papers

Multiple endocrine neoplasia type 1 with neuroglycopenic symptoms with a novel heterozygous MEN1 gene mutation.

Jiang X et al.

World Journal of Surgical Oncology, 2025

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

Investigating the novel-binding site of RPA2 on Menin and predicting the effect of point mutation of Menin through protein-protein interactions.

Kaur G et al.

Scientific Reports, 2023

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

Investigating the Effects of Amino Acid Variations in Human Menin.

Biancaniello C et al.

Molecules (basel, Switzerland), 2022

Insulinoma in an adolescent female with weight loss: a case report and literature review on pediatric insulinomas.

Gupta P et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2022

Multiple Endocrine Neoplasia Type 1: Latest Insights.

Brandi ML et al.

Endocrine Reviews, 2021

Whole genome sequencing of apparently mutation-negative MEN1 patients.

Backman S et al.

European Journal of Endocrinology, 2020

Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms.

Shimazu S et al.

Cancer Science, 2011

Crystal structure of menin reveals binding site for mixed lineage leukemia (MLL) protein.

Murai MJ et al.

The Journal of Biological Chemistry, 2011

The menin tumor suppressor protein is phosphorylated in response to DNA damage.

Francis J et al.

Plos One, 2011

Menin promotes the Wnt signaling pathway in pancreatic endocrine cells.

Chen G et al.

Molecular Cancer Research : Mcr, 2008

Menin critically links MLL proteins with LEDGF on cancer-associated target genes.

Yokoyama A et al.

Cancer Cell, 2008

Cutaneous lesions associated to multiple endocrine neoplasia syndrome type 1.

Vidal A et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2008

Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus.

Hughes CM et al.

Molecular Cell, 2004

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

Menin, the multiple endocrine neoplasia type 1 gene product, exhibits GTP-hydrolyzing activity in the presence of the tumor metastasis suppressor nm23.

Yaguchi H et al.

The Journal of Biological Chemistry, 2002

Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

Wautot V et al.

Human Mutation, 2002

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

Genetic disorders of calcium and phosphorus metabolism.

Root AW

Critical Reviews in Clinical Laboratory Sciences, 2000

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 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."