Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.G42S
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MEN1

NM_001370259.2:p.G42S

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

Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms.

Lagarde A et al.

Endocrine Connections, 2022

Early Detection of Relapse by ctDNA Sequencing in a Patient with Metastatic Thymic Tumor and MEN1 Mosaicism.

Lagarde A et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling?

Coppin L et al.

European Journal of Endocrinology, 2022

Convergence between germline and somatic mutations in pancreatic neuroendocrine tumors.

Ling C et al.

European Journal of Endocrinology, 2022

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

Heterogeneity of the Clinical Presentation of the MEN1 LRG_509 c.781C>T (p.Leu261Phe) Variant Within a Three-Generation Family.

Gilis-Januszewska A et al.

Genes, 2021

Genetics of Acromegaly and Gigantism.

Bogusławska A et al.

Journal of Clinical Medicine, 2021

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

Clinical and Genetic Analysis of Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism in Chinese.

Kong J et al.

Plos One, 2016

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

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

Guo SS et al.

Molecular Endocrinology (baltimore, Md.), 2001

Somatic mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in patients with sporadic, nonfamilial primary hyperparathyroidism.

Sato K et al.

Surgery, 2000

Mutations in the MEN I gene in sporadic neuroendocrine tumours of gastroenteropancreatic system.

Toliat MR et al.

Lancet (london, England), 1997

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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."