Varaico: Literature-Extracted Genetic Variants

Gene:CNTRL
Variant:p.S2171T

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.S2171T
c.6512G>C
Surrounding Variants
1 paper
NM_007018.6
p.E2167A
c.6500A>C
1 paper
NM_007018.6
p.P2183T
c.6547C>A
1 paper
NM_007018.6
p.T2210I
c.6629C>T
1 paper
NM_007018.6
p.R2233H
c.6698G>A
1 paper
NM_007018.6
p.Q2259E
c.6775C>G
1 paper
NM_007018.6
p.E2125K
c.6373G>A
1 paper
NM_007018.6
p.R2118W
c.6352C>T
1 paper
NM_007018.6
p.T2107I
c.6320C>T
1 paper
NM_007018.6
p.Q2096L
c.6287A>T
1 paper
NM_007018.6
p.E2093G
c.6278A>G
2 papers
NM_007018.6
p.A2074D
c.6221C>A
1 paper
NM_007018.6
p.L2057I
c.6169C>A
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