Varaico: Literature-Extracted Genetic Variants

Gene:CNTRL
Variant:p.M1_K2insFs

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.M1_K2insFs
c.3_4insA
Surrounding Variants
1 paper
NM_007018.6
p.Q6E
c.16C>G
1 paper
NM_007018.6
p.F10S
c.29T>C
2 papers
NM_007018.6
p.A13E
c.38C>A
1 paper
NM_007018.6
p.S26F
c.77C>T
1 paper
NM_007018.6
p.M30R
c.89T>G
1 paper
NM_007018.6
p.R33W
c.97A>T
1 paper
NM_007018.6
p.S34P
c.100T>C
1 paper
NM_007018.6
p.G49*
c.145G>T
2 papers
NM_007018.6
p.G49G
c.147A>T
1 paper
NM_007018.6
p.G50V
c.149G>T
1 paper
NM_007018.6
p.W52*
c.155G>A
1 paper
NM_007018.6
p.W52*
c.156G>A
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