Varaico: Literature-Extracted Genetic Variants

Gene:CEP83
Variant:p.E116*

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
3 papers
NM_016122.3
p.E116*
c.346G>T
Surrounding Variants
1 paper
NM_016122.3
p.P112_L118del0
c.335_352del18
1 paper
NM_016122.3
p.R133H
c.398G>A
1 paper
NM_016122.3
p.N136N
c.408T>C
2 papers
NM_016122.3
p.L137P
c.410T>C
1 paper
NM_016122.3
p.D138G
c.413A>G
1 paper
NM_016122.3
p.E139*
c.415G>T
1 paper
NM_016122.3
p.E139_E140Splc
c.417+3A>G
1 paper
NM_016122.3
p.E140K
c.418G>A
1 paper
NM_016122.3
p.K143delFs
c.428delT
1 paper
NM_016122.3
p.L151_R152insT
c.451_455ins3
1 paper
NM_016122.3
p.L173S
c.518T>C
1 paper
NM_016122.3
p.T99I
c.296C>T
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