Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1B
Variant:p.G9R
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CDKN1B

NM_004064.5:p.G9R

Associated Papers

GnomAD Missense Variants of Uncertain Significance: Implications for p53 Stability and Phosphorylation.

García-Ayala FD et al.

International Journal of Molecular Sciences, 2025

p27Kip1 and Tumors: Characterization of CDKN1B Variants Identified in MEN4 and Breast Cancer.

Bencivenga D et al.

Cells, 2025

39936980 (PubMed )
Supplement: cells-14-00188-s001.zip › cells-3341448-supplementary.docx

Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review.

Chevalier B et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism.

Mazarico-Altisent I et al.

Journal of Endocrinological Investigation, 2023

36334246 (PubMed )
Supplement: 40618_2022_1948_MOESM1_ESM.xlsx › Supplementary_material

Multiple endocrine neoplasia type 4: a new member of the MEN family.

Singeisen H et al.

Endocrine Connections, 2023

Case Report: New CDKN1B Mutation in Multiple Endocrine Neoplasia Type 4 and Brief Literature Review on Clinical Management.

Lavezzi E et al.

Frontiers in Endocrinology, 2022

A cancer-associated CDKN1B mutation induces p27 phosphorylation on a novel residue: a new mechanism for tumor suppressor loss-of-function.

Bencivenga D et al.

Molecular Oncology, 2021

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

Clinical Features of Multiple Endocrine Neoplasia Type 4: Novel Pathogenic Variant and Review of Published Cases.

Frederiksen A et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.

MacFarland SP et al.

Jco Precision Oncology, 2019

Landscape of CDKN1B Mutations in Luminal Breast Cancer and Other Hormone-Driven Human Tumors.

Cusan M et al.

Frontiers in Endocrinology, 2018

MEN4 and CDKN1B mutations: the latest of the MEN syndromes.

Alrezk R et al.

Endocrine-related Cancer, 2017

p27Kip1 and human cancers: A reappraisal of a still enigmatic protein.

Bencivenga D et al.

Cancer Letters, 2017

The unpredictable consequences of CDKN1B/p27Kip1 mutations in cancer.

Borriello A et al.

Cell Cycle (georgetown, Tex.), 2015

MENX and MEN4.

Pellegata NS

Clinics (sao Paulo, Brazil), 2012

Somatic mutation and germline sequence abnormalities in CDKN1B, encoding p27Kip1, in sporadic parathyroid adenomas.

Costa-Guda J et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

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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."