Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.G225R
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MEN1

NM_001370259.2:p.G225R

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

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

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

Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiers.

Lemos MC et al.

The Journal of Endocrinology, 2009

Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome.

Mizusawa N et al.

Clinical Endocrinology, 2006

[Familial hyperparathyroidism].

Suzuki S

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006

Characteristics of the Danish families with multiple endocrine neoplasia type 1.

Jäger AC et al.

Molecular and Cellular Endocrinology, 2006

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

Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1).

Hai N et al.

European Journal of Endocrinology, 1999

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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."