Varaico: Literature-Extracted Genetic Variants

Gene:CNTRL
Variant:p.P1136_F1137del1

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
1 paper
NM_007018.6
p.P1136_F1137del1
c.3407_3409delCTT
Surrounding Variants
1 paper
NM_007018.6
p.A1134T
c.3400G>A
1 paper
NM_007018.6
p.R1140*
c.3418C>T
1 paper
NM_007018.6
p.Y1142C
c.3425A>G
1 paper
NM_007018.6
p.R1121S
c.3361C>A
1 paper
NM_007018.6
p.N1105K
c.3315C>A
1 paper
NM_007018.6
p.N1105K
c.3315C>G
1 paper
NM_007018.6
p.R1086*
c.3256C>T
1 paper
NM_007018.6
p.L1080L
c.3240G>A
1 paper
NM_007018.6
p.E1078D
c.3234G>C
1 paper
NM_007018.6
p.E1078D
c.3234G>T
1 paper
NM_007018.6
p.N1071K
c.3213C>A
1 paper
NM_007018.6
p.N1071K
c.3213C>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."