Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.D172V
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MEN1

NM_001370259.2:p.D172V

Associated Papers

A Cohort Study of CNS Tumors in Multiple Endocrine Neoplasia Type 1.

Graillon T et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

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

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

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1

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 › ClinVar

Genetics of neuroendocrine and carcinoid tumours.

Leotlela PD et al.

Endocrine-related Cancer, 2003

Molecular and genetic mechanisms of tumorigenesis in multiple endocrine neoplasia type-1.

Guo SS et al.

Molecular Endocrinology (baltimore, Md.), 2001

Mutations and allelic deletions of the MEN1 gene are associated with a subset of sporadic endocrine pancreatic and neuroendocrine tumors and not restricted to foregut neoplasms.

Görtz B et al.

The American Journal of Pathology, 1999

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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."