Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.R516fs
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MEN1

NM_001370259.2:p.R516fs

Associated Papers

Clinically Defined Mutations in MEN1 Alter Its Tumor-suppressive Function Through Increased Menin Turnover.

Duan S et al.

Cancer Research Communications, 2023

Menin Loss in Pheochromocytoma of Multiple Endocrine Neoplasia Type 1.

Asa SL et al.

Endocrine Pathology, 2023

Multiple endocrine neoplasia type 1 familial case in a patient with insulinoma and primary hyperparathyroidism: First report in literature and in the Costa Rican population of the c.1224_1225insGTCC pathogenic variant.

Molina-Céspedes P et al.

Clinical Case Reports, 2023

Convergence between germline and somatic mutations in pancreatic neuroendocrine tumors.

Ling C et al.

European Journal of Endocrinology, 2022

SWI/SNF complex alterations as a biomarker of immunotherapy efficacy in pancreatic cancer.

Botta GP et al.

Jci Insight, 2021

34375311 (PubMed )
Supplement: jciinsight-6-150453-s258.pdf

Microsatellite Instability-High, Malignant Insulinoma With Brain Metastasis.

Starr J et al.

Cureus, 2021

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1

Genes involved in angiogenesis and mTOR pathways are frequently mutated in Asian patients with pancreatic neuroendocrine tumors.

Chou WC et al.

International Journal of Biological Sciences, 2016

27994516 (PubMed )
Supplement: ijbsv12p1523s1.xls › mutation_table

Primary hyperparathyroidism in MEN1 patients: a cohort study with longterm follow-up on preferred surgical procedure and the relation with genotype.

Pieterman CR et al.

Annals of Surgery, 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

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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."