Varaico: Literature-Extracted Genetic Variants

Gene:CEP83
Variant:p.M1T

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
1 paper
NM_016122.3
p.M1T
c.2T>C
Surrounding Variants
1 paper
NM_016122.3
p.S4C
c.10A>T
1 paper
NM_016122.3
p.T11P
c.31A>C
1 paper
NM_016122.3
p.N15S
c.44A>G
1 paper
NM_016122.3
p.T25delFs
c.74delG
1 paper
NM_016122.3
p.Q32*
c.94C>T
1 paper
NM_016122.3
p.R41*
c.121C>T
1 paper
NM_016122.3
p.T51insFs
c.151_152insT
1 paper
NM_016122.3
p.E69Q
c.205G>C
1 paper
NM_016122.3
p.L70delFs
c.208delG
1 paper
NM_016122.3
p.Q80*
c.238C>T
1 paper
NM_016122.3
p.Q81*
c.241C>T
1 paper
NM_016122.3
p.E82K
c.244G>A
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