Varaico: Literature-Extracted Genetic Variants

Gene:CEP104
Variant:p.I139T

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.I139T
c.416T>C
Surrounding Variants
2 papers
NM_014704.4
p.N138delFs
c.414delG
2 papers
NM_014704.4
p.N138fs
c.412_413fs
1 paper
NM_014704.4
p.H133L
c.398A>T
1 paper
NM_014704.4
p.H130R
c.389A>G
1 paper
NM_014704.4
p.D119A
c.356A>C
1 paper
NM_014704.4
p.K105E
c.313A>G
1 paper
NM_014704.4
p.S99delFs
c.295_296delGA
1 paper
NM_014704.4
p.Y97H
c.289T>C
1 paper
NM_014704.4
p.L95H
c.284T>A
1 paper
NM_014704.4
p.L95F
c.283C>T
1 paper
NM_014704.4
p.E90V
c.269A>T
1 paper
NM_014704.4
p.E90G
c.269A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."