Varaico: Literature-Extracted Genetic Variants

Gene:DNAI1
Variant:p.G515S
Back to variants list

DNAI1

NM_012144.4:p.G515S

Associated Papers

A reduction in effective population size has not relaxed purifying selection in the human population of Eivissa (Balearic Islands).

Aizpurua-Iraola J et al.

Scientific Reports, 2025

39753655 (PubMed )
Supplement: 41598_2024_84271_MOESM1_ESM.xlsx › STable_9

Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.

Raidt J et al.

The European Respiratory Journal, 2024

38871375 (PubMed )
Supplement: ERJ-01769-2023.Table_E2.xlsx › AlleleFrequenciesgnomAD_22.03.2

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Wang Z et al.

Genome Medicine, 2021

34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1

Longitudinal Lung Volume Changes by Ultrastructure and Genotype in Primary Ciliary Dyskinesia.

Pifferi M et al.

Annals of the American Thoracic Society, 2021

33760720 (PubMed )
Supplement: pifferi_data_supplement.pdf

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

Ciliary beating recovery in deficient human airway epithelial cells after lentivirus ex vivo gene therapy.

Chhin B et al.

Plos Genetics, 2009

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.

Zariwala MA et al.

American Journal of Respiratory and Critical Care Medicine, 2006

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."