Varaico: Literature-Extracted Genetic Variants

Gene:KIF14
Variant:p.R364C
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KIF14

NM_014875.3:p.R364C

Associated Papers

KIF14 controls ciliogenesis via regulation of Aurora A and is important for Hedgehog signaling.

Pejskova P et al.

The Journal of Cell Biology, 2020

Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.

Reilly ML et al.

Human Molecular Genetics, 2019

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

Heidet L et al.

Journal of the American Society of Nephrology : Jasn, 2017

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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."