Varaico: Literature-Extracted Genetic Variants

Gene:CNTRL
Variant:p.E520D

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.E520D
c.1560A>T
Surrounding Variants
1 paper
NM_007018.6
p.Q518R
c.1553A>G
1 paper
NM_007018.6
p.A527A
c.1581C>T
1 paper
NM_007018.6
p.E511K
c.1531G>A
2 papers
NM_007018.6
p.R509L
c.1526G>T
3 papers
NM_007018.6
p.R509C
c.1525C>T
1 paper
NM_007018.6
p.D541H
c.1621G>C
1 paper
NM_007018.6
p.D541V
c.1622A>T
1 paper
NM_007018.6
p.D547G
c.1640A>G
1 paper
NM_007018.6
p.A480V
c.1439C>T
1 paper
NM_007018.6
p.E473K
c.1417G>A
1 paper
NM_007018.6
p.E473*
c.1417G>T
1 paper
NM_007018.6
p.S454*
c.1361C>A
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