Varaico: Literature-Extracted Genetic Variants

Gene:CNTRL
Variant:p.A992_E993delFs

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.A992_E993delFs
c.2976_2977delTG
Surrounding Variants
1 paper
NM_007018.6
p.T995S
c.2983A>T
1 paper
NM_007018.6
p.K981R
c.2942A>G
1 paper
NM_007018.6
p.L979I
c.2935C>A
1 paper
NM_007018.6
p.K977_K978insC
c.2929_2933ins3
1 paper
NM_007018.6
p.N1012_Q1013insT
c.3034_3038ins3
1 paper
NM_007018.6
p.A1022_E1023insT
c.3064_3068ins3
1 paper
NM_007018.6
p.A1030T
c.3088G>A
1 paper
NM_007018.6
p.R1038*
c.3112C>T
2 papers
NM_007018.6
p.R1058*
c.3172C>T
1 paper
NM_007018.6
p.N1071K
c.3213C>A
1 paper
NM_007018.6
p.N1071K
c.3213C>G
1 paper
NM_007018.6
p.E1078D
c.3234G>C
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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."