Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L249_D252del4
Back to variants list

MEN1

NM_001370259.2:p.L249_D252del4

Associated Papers

Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.

Sukrithan V et al.

Journal of the National Comprehensive Cancer Network : Jnccn, 2025

40588228 (PubMed )
Supplement: jnccn240295SupplementaryData1.pdf

The Complex Etiology of Epilepsy: Genetic Analysis and HLA Association in Patients in the Middle East.

Fadda A et al.

International Journal of Molecular Sciences, 2025

40565278 (PubMed )
Supplement: ijms-26-05815-s001.zip › Table_S1._Clinical_and_genetic_data_and_HLA_typing.xlsx › Genetic_data

Rare Combination of Multiple Endocrine Neoplasia 1 with Medullary Thyroid Carcinoma and Clinical Value of 68 Ga-DOTATATE PET/CT in Diagnosing Different Lesions and Exploring Theranostic Strategy.

Baberwal P et al.

World Journal of Nuclear Medicine, 2025

The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.

Lam WKJ et al.

The Lancet Regional Health. Western Pacific, 2025

39944418 (PubMed )
Supplement: mmc1.docx

Sarcomas arising in MEN1 patients: demonstrating LOH of the MEN1 locus and loss of menin expression.

van Leeuwaarde RS et al.

Familial Cancer, 2024

Updates on the genetics of multiple endocrine neoplasia.

Sahakian N et al.

Annales D'endocrinologie, 2024

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

Challenges in molecular diagnosis of multiple endocrine neoplasia.

Romanet P et al.

Frontiers in Endocrinology, 2024

Constitutional mosaicism for a pathogenic variant in MEN1 associated with multiple endocrine neoplasia type I syndrome.

Jacquart A et al.

Clinical Genetics, 2023

An Asymptomatic Case With MEN1 Slipping Through Genetic Screening by SNV-dependent Allelic Dropout.

Kosugi R et al.

Journal of the Endocrine Society, 2022

Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.

Savatt JM et al.

Bmc Medicine, 2022

35668420 (PubMed )
Supplement: 12916_2022_2375_MOESM1_ESM.xlsx › Supplemental_Table_1_

The Management of Neuroendocrine Tumors of the Lung in MEN1: Results From the Dutch MEN1 Study Group.

van den Broek MFM et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Incidental finding of MEN-1 syndrome during staging and follow-up of breast carcinoma.

Maria BC et al.

Bmj Case Reports, 2020

Identification of Novel Variants in MEN1: A Study Conducted with Four Multiple Endocrine Neoplasia Type 1 Patients.

Hu WM et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2020

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.

Dewey FE et al.

Science (new York, N.y.), 2016

28008009 (PubMed )
Supplement: aaf6814-dewey-tabless1-s14.xlsx › Table_S13

EUS is superior for detection of pancreatic lesions compared with standard imaging in patients with multiple endocrine neoplasia type 1.

van Asselt SJ et al.

Gastrointestinal Endoscopy, 2015

Natural course and survival of neuroendocrine tumors of thymus and lung in MEN1 patients.

de Laat JM et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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

Chung YJ et al.

Endocrinology and Metabolism (seoul, Korea), 2014

Oncocytic subtype of well differentiated neuroendocrine tumor: clinicopathologic and molecular associations of a cohort diagnosed on fine needle aspiration (FNA).

Hsiao WY et al.

Journal of the American Society of Cytopathology, 0

Targeted Next-Generation Sequencing of MEN 1, RET, CDC 73, and CDKNIB Genes in Familial Primary Hyperparathyroidism: A Study from Northern India.

Qadir A et al.

Indian Journal of Endocrinology and Metabolism, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."