Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.H139Y
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MEN1

NM_001370259.2:p.H139Y

Associated Papers

Multiple endocrine neoplasia type 1 with neuroglycopenic symptoms with a novel heterozygous MEN1 gene mutation.

Jiang X et al.

World Journal of Surgical Oncology, 2025

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

Multi-omics analyses of MEN1 missense mutations identify disruption of menin-MLL and menin-JunD interactions as critical requirements for molecular pathogenicity.

Dreijerink KMA et al.

Epigenetics & Chromatin, 2022

35941657 (PubMed )
Supplement: 13072_2022_461_MOESM5_ESM.xlsx › Database_van_mutaties

Investigating the Effects of Amino Acid Variations in Human Menin.

Biancaniello C et al.

Molecules (basel, Switzerland), 2022

35268848 (PubMed )
Supplement: molecules-27-01747-s001.zip › Supplementary-Table-S4.pdf

Comprehensive Analysis of MEN1 Mutations and Their Role in Cancer.

Nelakurti DD et al.

Cancers, 2020

32937789 (PubMed )
Supplement: cancers-12-02616-s001.zip › cancers-901091-final_check-supplementary › Supplementary_Table_S4.xlsx › CRAVAT_output_non-TCGA_rajaseka

Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing.

Carvalho RA et al.

European Journal of Endocrinology, 2018

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

Cardoso L et al.

Human Mutation, 2017

Aryl hydrocarbon receptor interacting protein (AIP) mutations occur rarely in sporadic parathyroid adenomas.

Pardi E et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort.

Guarnieri V et al.

Cellular Oncology (dordrecht, Netherlands), 2012

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

Menin promotes the Wnt signaling pathway in pancreatic endocrine cells.

Chen G et al.

Molecular Cancer Research : Mcr, 2008

Menin, a tumor suppressor, associates with nonmuscle myosin II-A heavy chain.

Obungu VH et al.

Oncogene, 2003

The 32-kilodalton subunit of replication protein A interacts with menin, the product of the MEN1 tumor suppressor gene.

Sukhodolets KE et al.

Molecular and Cellular Biology, 2003

Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

Wautot V et al.

Human Mutation, 2002

Molecular and genetic mechanisms of tumorigenesis in multiple endocrine neoplasia type-1.

Guo SS et al.

Molecular Endocrinology (baltimore, Md.), 2001

Tumor suppressor loss in pituitary tumors.

Alexander JM

Brain Pathology (zurich, Switzerland), 2001

The MEN1 gene and associated diseases: an update.

Tsukada T et al.

Endocrine Pathology, 2001

Genetic disorders of calcium and phosphorus metabolism.

Root AW

Critical Reviews in Clinical Laboratory Sciences, 2000

Multiple endocrine neoplasia type 1.

Pannett AA et al.

Endocrine-related Cancer, 1999

Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription.

Agarwal SK et al.

Cell, 1999

Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 (MEN1).

Marx SJ et al.

Journal of Internal Medicine, 1998

Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families.

Agarwal SK et al.

Human Mutation, 1998

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

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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."