Varaico: Literature-Extracted Genetic Variants

Gene:CEP104
Variant:p.R280C

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.R280C
c.838C>T
Surrounding Variants
1 paper
NM_014704.4
p.E288Q
c.862G>C
1 paper
NM_014704.4
p.K272Q
c.814A>C
1 paper
NM_014704.4
p.E271*
c.811G>T
1 paper
NM_014704.4
p.A269T
c.805G>A
1 paper
NM_014704.4
p.K263delFs
c.789delC
1 paper
NM_014704.4
p.K263N
c.789G>T
1 paper
NM_014704.4
p.K263N
c.789G>C
1 paper
NM_014704.4
p.L297_M298Splc
c.891+1G>A
1 paper
NM_014704.4
p.E262K
c.784G>A
4 papers
NM_014704.4
p.Y253*
c.759T>G
4 papers
NM_014704.4
p.Y253*
c.759T>A
2 papers
NM_014704.4
p.E248E
c.744A>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."