Varaico: Literature-Extracted Genetic Variants

Gene:CEP104
Variant:p.R166*

CEP104

131 papers

RefSeq Summary

This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation s...

Pfam Domains

CEP104_Naa 33–152UCSCCentrosomal protein CEP104, N-terminal domain
CEP104_ZnFaa 753–864UCSCCentrosomal protein CEP104, ZnF

Gene Aliases

HGNC Name

centrosomal protein 104

HGNC Previous Symbol

KIAA0562

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_014704.4
p.R166*
c.496C>T
Surrounding Variants
2 papers
NM_014704.4
p.T186T
c.558G>A
1 paper
NM_014704.4
p.A188T
c.562G>A
1 paper
NM_014704.4
p.G152R
c.454G>C
1 paper
NM_014704.4
p.G152R
c.454G>A
1 paper
NM_014704.4
p.I150N
c.449T>A
1 paper
NM_014704.4
p.I139T
c.416T>C
2 papers
NM_014704.4
p.N138delFs
c.414delG
2 papers
NM_014704.4
p.N138fs
c.412_413fs
1 paper
NM_014704.4
p.H133L
c.398A>T
1 paper
NM_014704.4
p.H130R
c.389A>G
1 paper
NM_014704.4
p.D119A
c.356A>C
1 paper
NM_014704.4
p.K105E
c.313A>G
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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."