Varaico: Literature-Extracted Genetic Variants

Gene:CNTRL
Variant:p.P216L

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
6 papers
NM_007018.6
p.P216L
c.647C>T
Surrounding Variants
1 paper
NM_007018.6
p.D219Y
c.655G>T
1 paper
NM_007018.6
p.K213_L214delFs
c.639_640delGT
1 paper
NM_007018.6
p.Q209H
c.627A>C
1 paper
NM_007018.6
p.Q209H
c.627A>T
1 paper
NM_007018.6
p.I224F
c.670A>T
1 paper
NM_007018.6
p.V230fs
c.688_689fs
1 paper
NM_007018.6
p.F239S
c.716T>C
1 paper
NM_007018.6
p.R245H
c.734G>A
1 paper
NM_007018.6
p.S249G
c.745A>G
1 paper
NM_007018.6
p.R266T
c.797G>C
1 paper
NM_007018.6
p.E270Splc
c.808+1G>A
1 paper
NM_007018.6
p.N203S
c.608A>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."