Varaico: Literature-Extracted Genetic Variants

Gene:CEP83
Variant:p.Y426*

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.Y426*
c.1278T>G
Surrounding Variants
2 papers
NM_016122.3
p.Y426*
c.1278T>A
1 paper
NM_016122.3
p.E427K
c.1279G>A
1 paper
NM_016122.3
p.Q425L
c.1274A>T
1 paper
NM_016122.3
p.Q425*
c.1273C>T
1 paper
NM_016122.3
p.R431W
c.1291C>T
1 paper
NM_016122.3
p.Q420E
c.1258C>G
1 paper
NM_016122.3
p.W418*
c.1254G>A
1 paper
NM_016122.3
p.W418*
c.1253G>A
1 paper
NM_016122.3
p.M411T
c.1232T>C
1 paper
NM_016122.3
p.R374C
c.1120C>T
1 paper
NM_016122.3
p.D373V
c.1118A>T
1 paper
NM_016122.3
p.V370_E371insFs
c.1110_1111insC
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