Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.L414P
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MEN1

NM_001370259.2:p.L414P

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

JAZF1, A Novel p400/TIP60/NuA4 Complex Member, Regulates H2A.Z Acetylation at Regulatory Regions.

Procida T et al.

International Journal of Molecular Sciences, 2021

33445503 (PubMed )
Supplement: ijms-22-00678-s001.zip › Supplementary_Table_S1.xlsx › GFP-H2A

Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing.

Carvalho RA et al.

European Journal of Endocrinology, 2018

H3.Y discriminates between HIRA and DAXX chaperone complexes and reveals unexpected insights into human DAXX-H3.3-H4 binding and deposition requirements.

Zink LM et al.

Nucleic Acids Research, 2017

28334823 (PubMed )
Supplement: gkx131_Supp.zip › nar-02107-m-2016-File011.xlsx › proteinGroups

Sarcomatoid carcinoma of the kidney in a MEN1 patient: case report and genetic profile.

Cavalli T et al.

Endocrine Journal, 2014

HOT1 is a mammalian direct telomere repeat-binding protein contributing to telomerase recruitment.

Kappei D et al.

The Embo Journal, 2013

23685356 (PubMed )
Supplement: emboj2013105s5.xlsx › Supplementary_Table_4

H2A.Z.2.2 is an alternatively spliced histone H2A.Z variant that causes severe nucleosome destabilization.

Bönisch C et al.

Nucleic Acids Research, 2012

22467210 (PubMed )
Supplement: supp_gks267_nar-02803-m-2011-File012.xlsx › proteinGroups

Novel MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1.

Toledo RA et al.

Clinical Endocrinology, 2007

Identification of three novel menin mutations (c.741delGTCA, c.1348T>C, c.1785delA) in unrelated Italian families affected with multiple endocrine neoplasia type 1: Additional information for mutational screening.

Asteria C et al.

Human Mutation, 2001

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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."