Varaico: Literature-Extracted Genetic Variants

Gene:CEP89
Variant:p.Q546_Q548del3

CEP89

95 papers

Pfam Domains

CEP89aa 1–736UCSCCentrosomal protein of 89 kDa

Gene Aliases

HGNC Name

centrosomal protein 89

HGNC Previous Symbol

CCDC123

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032816.5
p.Q546_Q548del3
c.1636_1643del9
Surrounding Variants
1 paper
NM_032816.5
p.K550del1
c.1648_1649delCTT
1 paper
NM_032816.5
p.L553P
c.1658T>C
4 papers
NM_032816.5
p.L554S
c.1661T>C
1 paper
NM_032816.5
p.E531fs
c.1591_1592fs
1 paper
NM_032816.5
p.E569K
c.1705G>A
1 paper
NM_032816.5
p.E528K
c.1582G>A
1 paper
NM_032816.5
p.R578Splc
c.1733+6T>A
1 paper
NM_032816.5
p.L587I
c.1759C>A
1 paper
NM_032816.5
p.I615K
c.1844T>A
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."