Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.G42V
Back to variants list

MEN1

NM_001370259.2:p.G42V

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

Investigating the Effects of Amino Acid Variations in Human Menin.

Biancaniello C et al.

Molecules (basel, Switzerland), 2022

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

Novel Germline p.Gly42Val MEN1 Mutation in a Family with Multiple Endocrine Neoplasia Type 1 - Excellent Response of Prolactinoma to Cabergoline.

Koehler VF et al.

Annals of Clinical and Laboratory Science, 2017

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

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."