Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.A164D
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MEN1

NM_001370259.2:p.A164D

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

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

Clinical aspects of multiple endocrine neoplasia type 1.

Al-Salameh A et al.

Nature Reviews. Endocrinology, 2021

Genetic and epigenetic analysis in korean patients with multiple endocrine neoplasia type 1.

Chung YJ et al.

Endocrinology and Metabolism (seoul, Korea), 2014

Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas.

Newey PJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

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

[Genetics of neuroendocrine tumors].

Calender A

La Revue Du Praticien, 2002

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

Guo SS et al.

Molecular Endocrinology (baltimore, Md.), 2001

The MEN1 gene and associated diseases: an update.

Tsukada T et al.

Endocrine Pathology, 2001

Molecular genetics of neuroendocrine tumors.

Calender A

Digestion, 2000

Multiple endocrine neoplasia type 1.

Pannett AA et al.

Endocrine-related Cancer, 1999

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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."