Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1B
Variant:p.E126D
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CDKN1B

NM_004064.5:p.E126D

Associated Papers

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

Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing's Disease With or Without an MEN4 Phenotype.

Chasseloup F et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

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

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

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in CDKN1B.

Elston MS et al.

Case Reports in Endocrinology, 2015

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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."