Varaico: Literature-Extracted Genetic Variants

Gene:ODAD1
Variant:p.K199_E200Splc

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
4 papers
NM_001364171.2
p.K199_E200Splc
c.598-2A>G
NM_144577.4
p.K162_E163Splc
c.487-2A>G
Surrounding Variants
1 paper
NM_001364171.2
p.K199_E200Splc
c.598-2A>C
2 papers
NM_001364171.2
p.E200fs
c.598_599fs
1 paper
NM_001364171.2
p.R222Splc
c.666-4G>A
1 paper
NM_144577.4
p.L195P
c.584T>C
1 paper
NM_001364171.2
p.R235_A236insFs
c.705_706ins4
2 papers
NM_144577.4
p.A199V
c.596C>T
1 paper
NM_001364171.2
p.E234_R235insFs
c.702_705dup4
2 papers
NM_144577.4
p.E200fs
c.598_599fs
1 paper
NM_144577.4
p.Q211*
c.631C>T
1 paper
NM_144577.4
p.H224Y
c.670C>T
1 paper
NM_001364171.2
p.N269I
c.806A>T
1 paper
NM_144577.4
p.P236fs
c.706_707fs
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