Varaico: Literature-Extracted Genetic Variants

Gene:CNTRL
Variant:p.M416I

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.M416I
c.1248G>T
Surrounding Variants
1 paper
NM_007018.6
p.M416I
c.1248G>A
1 paper
NM_007018.6
p.M416I
c.1248G>C
1 paper
NM_007018.6
p.K415N
c.1245G>C
1 paper
NM_007018.6
p.K415N
c.1245G>T
1 paper
NM_007018.6
p.P418S
c.1252C>T
1 paper
NM_007018.6
p.D419H
c.1255G>C
2 papers
NM_007018.6
p.L422V
c.1264C>G
1 paper
NM_007018.6
p.A408V
c.1223C>T
1 paper
NM_007018.6
p.H426D
c.1276C>G
1 paper
NM_007018.6
p.E401D
c.1203G>C
1 paper
NM_007018.6
p.E401D
c.1203G>T
1 paper
NM_007018.6
p.T400I
c.1199C>T
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