Varaico: Literature-Extracted Genetic Variants

Gene:CEP83
Variant:p.R209*

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
5 papers
NM_016122.3
p.R209*
c.625C>T
Surrounding Variants
4 papers
NM_016122.3
p.R209Q
c.626G>A
1 paper
NM_016122.3
p.K208I
c.623A>T
1 paper
NM_016122.3
p.V210G
c.629T>G
1 paper
NM_016122.3
p.D202H
c.604G>C
1 paper
NM_016122.3
p.Q197R
c.590A>G
1 paper
NM_016122.3
p.R195C
c.583C>T
3 papers
NM_016122.3
p.L194P
c.581T>C
1 paper
NM_016122.3
p.K235R
c.704A>G
1 paper
NM_016122.3
p.A236fs
c.706_707fs
1 paper
NM_016122.3
p.K238E
c.712A>G
1 paper
NM_016122.3
p.E239V
c.716A>T
1 paper
NM_016122.3
p.Q244P
c.731A>C
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