Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.I147F
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MEN1

NM_001370259.2:p.I147F

Associated Papers

Alternative splicing generates isoform diversity in MEN1.

Ramachandran A et al.

Endocrine Oncology (bristol, England), 2024

39649118 (PubMed )
Supplement: supplementary_table_3.xlsx › Supplementary_Table_3

Investigating the Effects of Amino Acid Variations in Human Menin.

Biancaniello C et al.

Molecules (basel, Switzerland), 2022

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-File012.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

Early-onset, progressive, frequent, extensive, and severe bone mineral and renal complications in multiple endocrine neoplasia type 1-associated primary hyperparathyroidism.

Lourenço DM et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2010

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."