Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.Q166*
Back to variants list

MEN1

NM_001370259.2:p.Q166*

Associated Papers

Overlapping Presentations and Diverse Genetic Defects Characterize Neuroendocrine Neoplasms in a Mexican Cohort.

Hernández-Ramírez LC et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

A Novel Multiple Endocrine Neoplasia Type 1 Gene Variant Found in Scalp Pulmonary Neuroendocrine Tumor Metastasis.

Takahashi Y et al.

Jcem Case Reports, 2025

Understanding the variant landscape, and genetic epidemiology of Multiple Endocrine Neoplasia in India.

Vatsyayan A et al.

Endocrine, 2024

Increased Prevalence of Germline Pathogenic CHEK2 Variants in Individuals With Pituitary Adenomas.

De Sousa SMC et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours.

Gheorghe AM et al.

International Journal of Molecular Sciences, 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

Approach of Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome-Related Skin Tumors.

Băicoianu-Nițescu LC et al.

Diagnostics (basel, Switzerland), 2022

Early Detection of Relapse by ctDNA Sequencing in a Patient with Metastatic Thymic Tumor and MEN1 Mosaicism.

Lagarde A et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Integrated Whole-Exome and Transcriptome Sequencing of Sporadic Parathyroid Adenoma.

Hu Y et al.

Frontiers in Endocrinology, 2021

Loss of p27 expression is associated with MEN1 gene mutations in sporadic parathyroid adenomas.

Borsari S et al.

Endocrine, 2017

Nonamplification ERBB2 genomic alterations in 5605 cases of recurrent and metastatic breast cancer: An emerging opportunity for anti-HER2 targeted therapies.

Ross JS et al.

Cancer, 2016

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

The MEN1 gene and associated diseases: an update.

Tsukada T et al.

Endocrine Pathology, 2001

Frequency of facial angiofibromas in Japanese patients with multiple endocrine neoplasia type 1.

Sakurai A et al.

Endocrine Journal, 2000

Genotype/phenotype correlation of multiple endocrine neoplasia type 1 gene mutations in sporadic gastrinomas.

Goebel SU et al.

The Journal of Clinical Endocrinology and Metabolism, 2000

Multiple endocrine neoplasia type 1.

Pannett AA et al.

Endocrine-related Cancer, 1999

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."