Varaico: Literature-Extracted Genetic Variants

Gene:CNTRL
Variant:p.A2074D

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
2 papers
NM_007018.6
p.A2074D
c.6221C>A
Surrounding Variants
1 paper
NM_007018.6
p.L2057I
c.6169C>A
1 paper
NM_007018.6
p.V2035A
c.6104T>C
1 paper
NM_007018.6
p.R2025W
c.6073C>T
2 papers
NM_007018.6
p.R2002H
c.6005G>A
1 paper
NM_007018.6
p.E2001*
c.6001G>T
1 paper
NM_007018.6
p.S1962N
c.5885G>A
1 paper
NM_007018.6
p.E2093G
c.6278A>G
1 paper
NM_007018.6
p.R1952K
c.5855G>A
1 paper
NM_007018.6
p.Q2096L
c.6287A>T
1 paper
NM_007018.6
p.T2107I
c.6320C>T
1 paper
NM_007018.6
p.R2118W
c.6352C>T
1 paper
NM_007018.6
p.E2125K
c.6373G>A
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