Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.W471C
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MEN1

NM_001370259.2:p.W471C

Associated Papers

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

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

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

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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."