Varaico: Literature-Extracted Genetic Variants

Gene:CEP104
Variant:p.I907N

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.I907N
c.2720T>A
Surrounding Variants
1 paper
NM_014704.4
p.S905R
c.2715C>G
1 paper
NM_014704.4
p.S905R
c.2715C>A
1 paper
NM_014704.4
p.S905R
c.2713A>C
1 paper
NM_014704.4
p.G904V
c.2711G>T
1 paper
NM_014704.4
p.P910L
c.2729C>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.S919G
c.2755A>G
1 paper
NM_014704.4
p.A895S
c.2683G>T
1 paper
NM_014704.4
p.R925C
c.2773C>T
1 paper
NM_014704.4
p.M871I
c.2613G>T
1 paper
NM_014704.4
p.M871I
c.2613G>C
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