Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.D418D
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MEN1

NM_001370259.2:p.D418D

Associated Papers

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table2.xls › Sheet1

Genotype-negative multiple endocrine neoplasia type 1 with prolactinoma, hyperparathyroidism, and subclinical Cushing's syndrome accompanied by hyperglycemia: a case report.

Kubo H et al.

Frontiers in Endocrinology, 2024

UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population.

Romanet P et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Co-occurrence of MEN1 p.Gly111fs and AIP p.Arg16His Variants in Familial MEN1 Phenotype.

DE Melo FM et al.

Anticancer Research, 2018

Genetic analysis of parathyroid and pancreatic tumors in a patient with multiple endocrine neoplasia type 1 using whole-exome sequencing.

Kim BY et al.

Bmc Medical Genetics, 2017

A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family.

Sun Y et al.

The Canadian Journal of Cardiology, 2015

Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4).

Thakker RV

Molecular and Cellular Endocrinology, 2014

Alterations of MEN1 and E-cadherin/β-catenin complex in sporadic pulmonary carcinoids.

Veschi S et al.

International Journal of Oncology, 2012

Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene.

Lemos MC et al.

Human Mutation, 2008

Multiple endocrine neoplasia type 1 (MEN1) gene mutations in a subset of patients with sporadic and familial primary hyperparathyroidism target the coding sequence but spare the promoter region.

Karges W et al.

The Journal of Endocrinology, 2000

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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."