Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.A160T
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MEN1

NM_001370259.2:p.A160T

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

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

p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation?

Nozières C et al.

Annales D'endocrinologie, 2014

Metabolic expressivity of human genetic variants: NMR metabotyping of MEN1 pathogenic mutants.

Blaise BJ et al.

Journal of Pharmaceutical and Biomedical Analysis, 2014

Altered MENIN expression disrupts the MAFA differentiation pathway in insulinoma.

Hamze Z et al.

Endocrine-related Cancer, 2013

Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms.

Shimazu S et al.

Cancer Science, 2011

MEN1 missense mutations impair sensitization to apoptosis induced by wild-type menin in endocrine pancreatic tumor cells.

Bazzi W et al.

Gastroenterology, 2008

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

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

Multiple endocrine neoplasia.

Thakker RV

Hormone Research, 2001

Multiple endocrine neoplasia type 1.

Pannett AA et al.

Endocrine-related Cancer, 1999

Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.

Teh BT et al.

The Journal of Clinical Endocrinology and Metabolism, 1998

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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."