Varaico: Literature-Extracted Genetic Variants

Gene:CEP104
Variant:p.A867V

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.A867V
c.2600C>T
Surrounding Variants
1 paper
NM_014704.4
p.M871L
c.2611A>T
1 paper
NM_014704.4
p.M871L
c.2611A>C
1 paper
NM_014704.4
p.M871I
c.2613G>T
1 paper
NM_014704.4
p.M871I
c.2613G>C
1 paper
NM_014704.4
p.M871I
c.2613G>A
4 papers
NM_014704.4
p.E857_A858Splc
c.2572-2A>G
1 paper
NM_014704.4
p.A895S
c.2683G>T
1 paper
NM_014704.4
p.G900R
c.2698G>C
1 paper
NM_014704.4
p.G900R
c.2698G>A
1 paper
NM_014704.4
p.G904V
c.2711G>T
1 paper
NM_014704.4
p.S905R
c.2713A>C
1 paper
NM_014704.4
p.S905R
c.2715C>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."