Varaico: Literature-Extracted Genetic Variants

Gene:CEP104
Variant:p.R220*

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
1 paper
NM_014704.4
p.R220*
c.658A>T
Surrounding Variants
2 papers
NM_014704.4
p.A224T
c.670G>A
1 paper
NM_014704.4
p.R215*
c.643C>T
1 paper
NM_014704.4
p.R215G
c.643C>G
1 paper
NM_014704.4
p.V225V
c.675C>T
1 paper
NM_014704.4
p.E209G
c.626A>G
1 paper
NM_014704.4
p.Q206_P208delFs
c.618_624del7
1 paper
NM_014704.4
p.M204R
c.611T>G
1 paper
NM_014704.4
p.M204V
c.610A>G
1 paper
NM_014704.4
p.F202fs
c.604_605fs
1 paper
NM_014704.4
p.Q238K
c.712C>A
1 paper
NM_014704.4
p.A201T
c.601G>A
4 papers
NM_014704.4
p.I240T
c.719T>C
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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."