Varaico: Literature-Extracted Genetic Variants

Gene:CEP72

CEP72

72 papers

RefSeq Summary

The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major micro...

Pfam Domains

LRR_9aa 40–163UCSCLeucine-rich repeat

Gene Aliases

HGNC Name

centrosomal protein 72

HGNC Alias Symbols

KIAA1519; FLJ10565

Papers
RefSeq ID
Protein change
DNA change
1–12 of 79 variants
6 papers
NM_018140.4
p.T509A
c.1525A>G
5 papers
NM_018140.4
p.P238L
c.713C>T
5 papers
NM_018140.4
p.P412T
c.1234C>A
4 papers
NM_018140.4
p.M304V
c.910A>G
4 papers
NM_018140.4
p.K314R
c.941A>G
4 papers
NM_018140.4
p.D316N
c.946G>A
3 papers
NM_018140.4
p.S607R
c.1819A>C
3 papers
NM_018140.4
p.S607R
c.1821C>A
3 papers
NM_018140.4
p.S607R
c.1821C>G
2 papers
NM_018140.4
p.D247H
c.739G>C
2 papers
NM_018140.4
p.G406R
c.1216G>A
2 papers
NM_018140.4
p.E490*
c.1468G>T
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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."