Varaico: Literature-Extracted Genetic Variants

Gene:CDK5RAP2
Variant:p.R1372*
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CDK5RAP2

NM_018249.6:p.R1372*

Associated Papers

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.

Rasool S et al.

Molecular Genetics & Genomic Medicine, 2020

32677750 (PubMed )
Supplement: MGG3-8-e1408-s002.pdf

The regulatory subunit phr2AB of Dictyostelium discoideum phosphatase PP2A interacts with the centrosomal protein CEP161, a CDK5RAP2 ortholog.

Müller R et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2018

CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.

Sukumaran SK et al.

Molecular Genetics and Genomics : Mgg, 2017

Exome sequencing identifies early gastric carcinoma as an early stage of advanced gastric cancer.

Kang G et al.

Plos One, 2013

24376576 (PubMed )
Supplement: pone.0082770.s002.xls › S2
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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."