Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.R29*
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MEN1

NM_001370259.2:p.R29*

Associated Papers

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

Clinical aspects of multiple endocrine neoplasia type 1.

Al-Salameh A et al.

Nature Reviews. Endocrinology, 2021

Comprehensive Analysis of MEN1 Mutations and Their Role in Cancer.

Nelakurti DD et al.

Cancers, 2020

Centromeric cohesion failure invokes a conserved choreography of chromosomal mis-segregations in pancreatic neuroendocrine tumor.

Quevedo R et al.

Genome Medicine, 2020

32345369 (PubMed )
Supplement: 13073_2020_730_MOESM5_ESM.xlsx › SD._Whole-genome_SNVs

Recurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer.

Lawrence B et al.

Npj Genomic Medicine, 2018

30062048 (PubMed )
Supplement: 41525_2018_58_MOESM2_ESM.xlsx › Table_S5

p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation?

Nozières C et al.

Annales D'endocrinologie, 2014

Novel association of thymic carcinoid with a germline mutation in a kindred with multiple endocrine neoplasia 1 (MEN1).

Khoo J et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2012

Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.

Klein RD et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005

Menin inactivation leads to loss of transforming growth factor beta inhibition of parathyroid cell proliferation and parathyroid hormone secretion.

Sowa H et al.

Cancer Research, 2004

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

Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families.

Sato M et al.

Journal of Medical Genetics, 1998

Detection of a novel nonsense mutation of the MEN1 gene in a familial multiple endocrine neoplasia type 1 patient and its screening in the family members.

Matsubara S et al.

Endocrine Journal, 1998

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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."