Varaico: Literature-Extracted Genetic Variants

Gene:CNTRL
Variant:p.R577C

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
Selected Variant
2 papers
NM_007018.6
p.R577C
c.1729C>T
Surrounding Variants
1 paper
NM_007018.6
p.E575K
c.1723G>A
1 paper
NM_007018.6
p.R584K
c.1751G>A
2 papers
NM_007018.6
p.T589M
c.1766C>T
1 paper
NM_007018.6
p.Q562E
c.1684C>G
1 paper
NM_007018.6
p.E601D
c.1803A>C
1 paper
NM_007018.6
p.H552L
c.1655A>T
1 paper
NM_007018.6
p.E601D
c.1803A>T
1 paper
NM_007018.6
p.H550_S551Splc
c.1651-20G>A
1 paper
NM_007018.6
p.Q603H
c.1809G>C
1 paper
NM_007018.6
p.Q603H
c.1809G>T
1 paper
NM_007018.6
p.E608delFs
c.1823_1824delAA
1 paper
NM_007018.6
p.V617F
c.1849G>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."