Varaico: Literature-Extracted Genetic Variants

Gene:CEP104
Variant:p.A443insFs

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
4 papers
NM_014704.4
p.A443insFs
c.1328_1329insT
Surrounding Variants
1 paper
NM_014704.4
p.A443_Y444insFs
c.1329_1330insT
1 paper
NM_014704.4
p.Y444C
c.1331A>G
4 papers
NM_014704.4
p.Y444fs
c.1330_1331fs
1 paper
NM_014704.4
p.T447M
c.1340C>T
1 paper
NM_014704.4
p.Y450N
c.1348T>A
2 papers
NM_014704.4
p.R451Q
c.1352G>A
1 paper
NM_014704.4
p.L458S
c.1373T>C
2 papers
NM_014704.4
p.D491D
c.1473C>T
2 papers
NM_014704.4
p.S495_V496Splc
c.1485+1G>A
1 paper
NM_014704.4
p.L501S
c.1502T>C
1 paper
NM_014704.4
p.H515D
c.1543C>G
1 paper
NM_014704.4
p.V532I
c.1594G>A
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