Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.E45D
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MEN1

NM_001370259.2:p.E45D

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

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant

Investigating the Effects of Amino Acid Variations in Human Menin.

Biancaniello C et al.

Molecules (basel, Switzerland), 2022

35268848 (PubMed )
Supplement: molecules-27-01747-s001.zip › Supplementary-Table-S4.pdf

Comprehensive Analysis of MEN1 Mutations and Their Role in Cancer.

Nelakurti DD et al.

Cancers, 2020

32937789 (PubMed )
Supplement: cancers-12-02616-s001.zip › cancers-901091-final_check-supplementary › Supplementary_Table_S4.xlsx › CRAVAT_output_non-TCGA_rajaseka

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

Guo SS et al.

Molecular Endocrinology (baltimore, Md.), 2001

Multiple endocrine neoplasia type 1.

Pannett AA et al.

Endocrine-related Cancer, 1999

Alternative genetic pathways in parathyroid tumorigenesis.

Farnebo F et al.

The Journal of Clinical Endocrinology and Metabolism, 1999

Alterations of the MEN1 gene in sporadic parathyroid tumors.

Farnebo F et al.

The Journal of Clinical Endocrinology and Metabolism, 1998

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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."