Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.G42D
Back to variants list

MEN1

NM_001370259.2:p.G42D

Associated Papers

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

Heterogeneity of Multiple Pancreatic Neuroendocrine Tumors Identified by 68Ga-DOTANOC and 68Ga-Exendin-4 PET/CT in a Patient with Endogenous Hyperinsulinemic Hypoglycemia and Multiple Endocrine Neoplasia 1.

Xu J et al.

Neuroendocrinology, 2024

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

Clinical aspects of multiple endocrine neoplasia type 1.

Al-Salameh A et al.

Nature Reviews. Endocrinology, 2021

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

A novel MEN1 mutation in a Japanese adolescent with multiple endocrine neoplasia type 1.

Itoh M et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2017

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

JunD-menin interaction regulates c-Jun-mediated AP-1 transactivation.

Ikeo Y et al.

Endocrine Journal, 2004

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

[Genetics of neuroendocrine tumors].

Calender A

La Revue Du Praticien, 2002

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

Guo SS et al.

Molecular Endocrinology (baltimore, Md.), 2001

The MEN1 gene and associated diseases: an update.

Tsukada T et al.

Endocrine Pathology, 2001

Somatic mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in patients with sporadic, nonfamilial primary hyperparathyroidism.

Sato K et al.

Surgery, 2000

Molecular genetics of neuroendocrine tumors.

Calender A

Digestion, 2000

Multiple endocrine neoplasia type 1.

Pannett AA et al.

Endocrine-related Cancer, 1999

Characterization of mutations in patients with multiple endocrine neoplasia type 1.

Bassett JH et al.

American Journal of Human Genetics, 1998

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."