Varaico: Literature-Extracted Genetic Variants

Gene:CNTRL
Variant:p.L1943R

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.L1943R
c.5828T>G
Surrounding Variants
4 papers
NM_007018.6
p.E1937K
c.5809G>A
1 paper
NM_007018.6
p.Q1933*
c.5797C>T
1 paper
NM_007018.6
p.L1932F
c.5794C>T
1 paper
NM_007018.6
p.Q1928del1
c.5782_5783delCAA
1 paper
NM_007018.6
p.K1920E
c.5758A>G
1 paper
NM_007018.6
p.L1897W
c.5690T>G
1 paper
NM_007018.6
p.R1952K
c.5855G>A
1 paper
NM_007018.6
p.S1962N
c.5885G>A
1 paper
NM_007018.6
p.E2001*
c.6001G>T
2 papers
NM_007018.6
p.R2002H
c.6005G>A
1 paper
NM_007018.6
p.E1864G
c.5591A>G
1 paper
NM_007018.6
p.R1863Q
c.5588G>A
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