Varaico: Literature-Extracted Genetic Variants

Gene:CEP104
Variant:p.A686V

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
5 papers
NM_014704.4
p.A686V
c.2057C>T
Surrounding Variants
1 paper
NM_014704.4
p.E698K
c.2092G>A
2 papers
NM_014704.4
p.G704E
c.2111G>A
1 paper
NM_014704.4
p.E711K
c.2131G>A
1 paper
NM_014704.4
p.I671T
c.2012T>C
1 paper
NM_014704.4
p.G667G
c.2001A>G
1 paper
NM_014704.4
p.R656H
c.1967G>A
2 papers
NM_014704.4
p.R656C
c.1966C>T
1 paper
NM_014704.4
p.R638R
c.1914A>G
2 papers
NM_014704.4
p.L634insFs
c.1901_1902insT
2 papers
NM_014704.4
p.L634fs
c.1900_1901fs
1 paper
NM_014704.4
p.T628M
c.1883C>T
1 paper
NM_014704.4
p.E627*
c.1879G>T
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."