Varaico: Literature-Extracted Genetic Variants

Gene:CDK6
Variant:p.A197T
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CDK6

NM_001145306.2:p.A197T

Associated Papers

Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent CDK6 variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population.

Khan MA et al.

Journal of Genetics, 2025

Prospective clinical sequencing of 1016 Chinese prostate cancer patients: uncovering genomic characterization and race disparity.

Wei Y et al.

Molecular Oncology, 2023

37584393 (PubMed )
Supplement: MOL2-17-2183-s002.xlsx › Table_S3

A kinase-independent function of cyclin-dependent kinase 6 promotes outer radial glia expansion and neocortical folding.

Wang L et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

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

Cyclin-dependent kinases and rare developmental disorders.

Colas P

Orphanet Journal of Rare Diseases, 2020

Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).

Naveed M et al.

Genetics Research, 2018

Molecular genetics of human primary microcephaly: an overview.

Faheem M et al.

Bmc Medical Genomics, 2015

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.

Hussain MS et al.

Human Molecular Genetics, 2013

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