Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.E45G
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MEN1

NM_001370259.2:p.E45G

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

Germline sequencing for presumed germline pathogenic variants via tumor-only comprehensive genomic profiling.

Kondo T et al.

International Journal of Clinical Oncology, 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

Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features.

Pardi E et al.

Plos One, 2017

Novel mutation 928G>C of MEN1 gene in a familial multiple endocrine neoplasia type 1 case (MEN1) with co-existence of insulinoma and glucagonoma.

Chen X et al.

Journal of Diabetes, 2015

Frequent germ-line mutations of the MEN1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism.

Starker LF et al.

Hormones & Cancer, 2012

Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene.

Griniatsos JE et al.

World Journal of Surgical Oncology, 2011

Co-existence of glucagonoma with recurrent insulinoma in a patient with multiple endocrine neoplasia-type 1 (MEN-1).

Nishiuchi T et al.

Endocrine, 2009

MEN1 gene analysis in patients with primary hyperparathyroidism: 10-year experience of a single institution for thyroid and parathyroid care in Japan.

Kihara M et al.

Endocrine Journal, 2009

Thymic carcinoid in multiple endocrine neoplasia 1: genotype-phenotype correlation and prevention.

Lim LC et al.

Journal of Internal Medicine, 2006

A novel missense mutation of the MEN1 gene in a multiple endocrine neoplasia type 1 patient associated with carcinoid syndrome.

Ukita C et al.

Internal Medicine (tokyo, Japan), 2003

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

Guo SS et al.

Molecular Endocrinology (baltimore, Md.), 2001

The MEN1 gene and associated diseases: an update.

Tsukada T et al.

Endocrine Pathology, 2001

Large and asymptomatic pancreatic islet cell tumor in a patient with multiple endocrine neoplasia type 1.

Sato M et al.

Endocrine, 2000

Expression of menin in parathyroid tumors.

Bhuiyan MM et al.

The Journal of Clinical Endocrinology and Metabolism, 2000

No evidence of germline mutation or somatic deletion of the MEN1 gene in a case of familial multiple endocrine neoplasia type 1 (MEN1).

Namihira H et al.

Endocrine Journal, 1999

Multiple endocrine neoplasia type 1.

Pannett AA et al.

Endocrine-related Cancer, 1999

A family of MEN1 with a novel germline missense mutation and benign polymorphisms.

Miyauchi A et al.

Endocrine Journal, 1998

Identification of five novel germline mutations of the MEN1 gene in Japanese multiple endocrine neoplasia type 1 (MEN1) families.

Sato M et al.

Journal of Medical Genetics, 1998

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