Varaico: Literature-Extracted Genetic Variants

Gene:DRC1
Variant:p.K686*
Back to variants list

DRC1

NM_145038.5:p.K686*

Associated Papers

Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility.

Pereira R et al.

Journal of Assisted Reproduction and Genetics, 2023

DRC1 deficiency caused primary ciliary dyskinesia and MMAF in a Chinese patient.

Lei C et al.

Journal of Human Genetics, 2022

Expanded phenotype of primary ciliary dyskinesia related to DRC1 pathogenic variant with dysmorphisms and vascular anomalies.

LeBlanc S et al.

American Journal of Medical Genetics. Part A, 2022

Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse.

Zhang J et al.

Human Molecular Genetics, 2021

Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

Raidt J et al.

The European Respiratory Journal, 2014

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.

Wirschell M et al.

Nature Genetics, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."