Varaico: Literature-Extracted Genetic Variants

Gene:CNTRL

CNTRL

159 papers

RefSeq Summary

This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem ...

Pfam Domains

LRR_9aa 115–280UCSCLeucine-rich repeat

Gene Aliases

HGNC Name

centriolin

HGNC Previous Symbol

CEP110

Papers
RefSeq ID
Protein change
DNA change
1–12 of 241 variants
6 papers
NM_007018.6
p.V56I
c.166G>A
6 papers
NM_007018.6
p.P216L
c.647C>T
4 papers
NM_007018.6
p.E1937K
c.5809G>A
3 papers
NM_007018.6
p.R196*
c.586C>T
3 papers
NM_007018.6
p.R509C
c.1525C>T
2 papers
NM_007018.6
p.A13E
c.38C>A
2 papers
NM_007018.6
p.G49G
c.147A>T
2 papers
NM_007018.6
p.L422V
c.1264C>G
2 papers
NM_007018.6
p.R509L
c.1526G>T
2 papers
NM_007018.6
p.R577C
c.1729C>T
2 papers
NM_007018.6
p.T589M
c.1766C>T
2 papers
NM_007018.6
p.R1058*
c.3172C>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."