Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.I54F
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MEN1

NM_001370259.2:p.I54F

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

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

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

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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