Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.R452Q
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MEN1

NM_001370259.2:p.R452Q

Associated Papers

Implementing a Genetic Counselor-Led Model for Hereditary Myeloid Malignancies: A Real-World Study.

VanDerGraaf M et al.

Cancer Medicine, 2025

40936482 (PubMed )
Supplement: CAM4-14-e71240-s001.xlsx › De-Identified_All_Patients

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 › gnomAD
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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."