Varaico: Literature-Extracted Genetic Variants

Gene:CEP104
Variant:p.K775_H776delFs

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.K775_H776delFs
c.2325_2326delGC
Surrounding Variants
2 papers
NM_014704.4
p.C777*
c.2331T>A
1 paper
NM_014704.4
p.R782*
c.2344A>T
2 papers
NM_014704.4
p.D770Y
c.2308G>T
2 papers
NM_014704.4
p.C786fs
c.2356_2357fs
2 papers
NM_014704.4
p.C786insFs
c.2357_2358insTT
1 paper
NM_014704.4
p.F764delFs
c.2291delA
3 papers
NM_014704.4
p.Q788_V789Splc
c.2364+1G>A
1 paper
NM_014704.4
p.P745L
c.2234C>T
1 paper
NM_014704.4
p.L742Q
c.2225T>A
1 paper
NM_014704.4
p.D730Splc
c.2189-1G>T
1 paper
NM_014704.4
p.N728I
c.2183A>T
1 paper
NM_014704.4
p.N728D
c.2182A>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."