rs3093728

This variant is located in the CDKN1B gene.

ClinVar annotation

Benign★★★
2 submitters

Multiple endocrine neoplasia type 4; not provided

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About CDKN1B

This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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