Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.A411P
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MEN1

NM_001370259.2:p.A411P

Associated Papers

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

Clinical aspects of multiple endocrine neoplasia type 1.

Al-Salameh A et al.

Nature Reviews. Endocrinology, 2021

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

Cardoso L et al.

Human Mutation, 2017

Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature.

Pontikides N et al.

Journal of Bone and Mineral Metabolism, 2014

Menin mediates epigenetic regulation via histone H3 lysine 9 methylation.

Yang YJ et al.

Cell Death & Disease, 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

Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism.

Pannett AA et al.

Clinical Endocrinology, 2003

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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."