Varaico: Literature-Extracted Genetic Variants

Gene:CEP83
Variant:p.R511P

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.R511P
c.1532G>C
Surrounding Variants
1 paper
NM_016122.3
p.C510*
c.1530C>A
1 paper
NM_016122.3
p.E504Q
c.1510G>C
1 paper
NM_016122.3
p.L499L
c.1495C>T
2 papers
NM_016122.3
p.E530*
c.1588G>T
1 paper
NM_016122.3
p.H543Y
c.1627C>T
1 paper
NM_016122.3
p.R545C
c.1633C>T
1 paper
NM_016122.3
p.V456M
c.1366G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."