Varaico: Literature-Extracted Genetic Variants

Gene:CEP83
Variant:p.Q650*

CEP83

91 papers

RefSeq Summary

The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [pr...

Gene Aliases

HGNC Name

centrosomal protein 83

HGNC Previous Symbol

CCDC41

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_016122.3
p.Q650*
c.1948C>T
Surrounding Variants
1 paper
NM_016122.3
p.M654L
c.1960A>C
1 paper
NM_016122.3
p.R630Q
c.1889G>A
1 paper
NM_016122.3
p.Q616H
c.1848A>T
1 paper
NM_016122.3
p.Q616H
c.1848A>C
1 paper
NM_016122.3
p.T613A
c.1837A>G
1 paper
NM_016122.3
p.D611V
c.1832A>T
4 papers
NM_016122.3
p.E669fs
c.2005_2006fs
1 paper
NM_016122.3
p.E669D
c.2007A>T
1 paper
NM_016122.3
p.E669D
c.2007A>C
2 papers
NM_016122.3
p.E669fs
c.2005_2006fs
4 papers
NM_016122.3
p.E669delFs
c.2007delT
1 paper
NM_016122.3
p.L675P
c.2024T>C
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