Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.E26K
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MEN1

NM_001370259.2:p.E26K

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

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

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

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

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

Recurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer.

Lawrence B et al.

Npj Genomic Medicine, 2018

30062048 (PubMed )
Supplement: 41525_2018_58_MOESM2_ESM.xlsx › Table_S5

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Adrenal involvement in multiple endocrine neoplasia type 1: results of 7 years prospective screening.

Waldmann J et al.

Langenbeck's Archives of Surgery, 2007

Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing.

Ellard S et al.

Clinical Endocrinology, 2005

Adrenal involvement in multiple endocrine neoplasia type 1.

Langer P et al.

World Journal of Surgery, 2002

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

Pancreaticoduodenal endocrine tumors in multiple endocrine neoplasia type 1: surgery or surveillance?

Bartsch DK et al.

Surgery, 2000

Genetic disorders of calcium and phosphorus metabolism.

Root AW

Critical Reviews in Clinical Laboratory Sciences, 2000

Multiple endocrine neoplasia type 1.

Pannett AA et al.

Endocrine-related Cancer, 1999

MEN1 gene mutations in 12 MEN1 families and their associated tumors.

Bartsch D et al.

European Journal of Endocrinology, 1998

Somatic mutation of the MEN1 gene in parathyroid tumours.

Heppner C et al.

Nature Genetics, 1997

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