Varaico: Literature-Extracted Genetic Variants

Gene:CEP104
Variant:p.D360delFs

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.D360delFs
c.1080delG
Surrounding Variants
1 paper
NM_014704.4
p.T366A
c.1096A>G
3 papers
NM_014704.4
p.Q335*
c.1003C>T
1 paper
NM_014704.4
p.S323S
c.969A>G
1 paper
NM_014704.4
p.R299Q
c.896G>A
2 papers
NM_014704.4
p.R299*
c.895C>T
1 paper
NM_014704.4
p.N373_A374Splc
c.1120-5T>A
1 paper
NM_014704.4
p.P378T
c.1132C>A
1 paper
NM_014704.4
p.R382G
c.1144C>G
1 paper
NM_014704.4
p.H390R
c.1169A>G
1 paper
NM_014704.4
p.G392V
c.1175G>T
1 paper
NM_014704.4
p.E381_E393delFs
c.1143_1179del37
1 paper
NM_014704.4
p.S401_A403delFs
c.1201_1208del8
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