Varaico: Literature-Extracted Genetic Variants

Gene:ODAD1
Variant:p.R85W

ODAD1

83 papers

RefSeq Summary

This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. [p...

Pfam Domains

ODAD1_CCaa 149–435UCSCODAD1 central coiled coil region

Gene Aliases

HGNC Name

outer dynein arm docking complex subunit 1

HGNC Previous Symbol

CCDC114

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001364171.2
p.R85W
c.253C>T
Surrounding Variants
1 paper
NM_001364171.2
p.R89P
c.266G>C
1 paper
NM_001364171.2
p.D94_R100delFs
c.281_300del20
1 paper
NM_144577.4
p.R30W
c.88C>T
1 paper
NM_001364171.2
p.R61Q
c.182G>A
3 papers
NM_144577.4
p.Q76*
c.226C>T
NM_001364171.2
p.Q113*
c.337C>T
2 papers
NM_001364171.2
p.L57Splc
c.170+1G>A
1 paper
NM_144577.4
p.Q14*
c.40C>T
1 paper
NM_001364171.2
p.E39D
c.117A>T
2 papers
NM_144577.4
p.M1_E2insFs
c.3_4insT
1 paper
NM_001364171.2
p.R33*
c.97C>T
1 paper
NM_001364171.2
p.V24L
c.70G>T
1 paper
NM_001364171.2
p.V24L
c.70G>C
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."