Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.E235K
Back to variants list

MEN1

NM_001370259.2:p.E235K

Associated Papers

Nanopore adaptive sampling accurately detects nucleotide variants and improves the characterization of large-scale rearrangement for the diagnosis of cancer predisposition.

Chevrier S et al.

Clinical and Translational Medicine, 2025

39783935 (PubMed )
Supplement: CTM2-15-e70138-s002.docx

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

Duan S et al.

Cancer Research Communications, 2023

[Casuistic cases of parathyroid carcinoma with a verified mutation in the MEN1 gene].

Pylina SV et al.

Problemy Endokrinologii, 2023

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

Prevalence of Parathyroid Carcinoma and Atypical Parathyroid Neoplasms in 153 Patients With Multiple Endocrine Neoplasia Type 1: Case Series and Literature Review.

Song A et al.

Frontiers in Endocrinology, 2020

Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.

Cardoso L et al.

Human Mutation, 2017

Parathyroid carcinoma and atypical parathyroid neoplasms in MEN1 patients; A clinico-pathologic challenge. The MD Anderson case series and review of the literature.

Christakis I et al.

International Journal of Surgery (london, England), 2016

Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas.

Newey PJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

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

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."