Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.E45K
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MEN1

NM_001370259.2:p.E45K

Associated Papers

Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis.

Kim B et al.

Endocrinology and Metabolism (seoul, Korea), 2024

39552147 (PubMed )
Supplement: enm-2024-2008-Supplemental-Table-S1.pdf

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 Effects of Amino Acid Variations in Human Menin.

Biancaniello C et al.

Molecules (basel, Switzerland), 2022

35268848 (PubMed )
Supplement: molecules-27-01747-s001.zip › Supplementary-Table-S4.pdf

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

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

Marini F et al.

Endocrine, 2018

Nonfunctional pancreatic endocrine tumor in the peripancreatic region in a Chinese patient with multiple endocrine neoplasia type 1.

Wang BP et al.

The Journal of International Medical Research, 2018

Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene.

Griniatsos JE et al.

World Journal of Surgical Oncology, 2011

Clinical testing for mutations in the MEN1 gene in Sweden: a report on 200 unrelated cases.

Tham E et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

A rapid and easy method for multiple endocrine neoplasia type 1 mutation detection using conformation-sensitive gel electrophoresis.

Arancha C et al.

Journal of Human Genetics, 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

MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1.

Morelli A et al.

European Journal of Endocrinology, 2000

Genetic screening methods for the detection of mutations responsible for multiple endocrine neoplasia type 1.

Balogh K et al.

Molecular Genetics and Metabolism, 0

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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."