Varaico: Literature-Extracted Genetic Variants

Gene:MEN1
Variant:p.F144V
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MEN1

NM_001370259.2:p.F144V

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

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

The 32-kilodalton subunit of replication protein A interacts with menin, the product of the MEN1 tumor suppressor gene.

Sukhodolets KE et al.

Molecular and Cellular Biology, 2003

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

Guo SS et al.

Molecular Endocrinology (baltimore, Md.), 2001

Tumor suppressor loss in pituitary tumors.

Alexander JM

Brain Pathology (zurich, Switzerland), 2001

10 Swiss kindreds with multiple endocrine neoplasia type 1: assessment of screening methods.

Clerici T et al.

Swiss Medical Weekly, 2001

The MEN1 gene and associated diseases: an update.

Tsukada T et al.

Endocrine Pathology, 2001

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

Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 (MEN1).

Marx SJ et al.

Journal of Internal Medicine, 1998

Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated families.

Agarwal SK et al.

Human Mutation, 1998

Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.

Agarwal SK et al.

Human Molecular Genetics, 1997

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