Varaico: Literature-Extracted Genetic Variants

Gene:CEP170
Variant:p.P1051L

CEP170

158 papers

RefSeq Summary

The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein...

Pfam Domains

FHAaa 23–90UCSCFHA domain
CEP170_Caa 809–1506UCSCCEP170 C-terminus

Gene Aliases

HGNC Name

centrosomal protein 170

HGNC Previous Symbol

KIAA0470

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_014812.3
p.P1051L
c.3152C>T
Surrounding Variants
1 paper
NM_014812.3
p.S1059L
c.3176C>T
1 paper
NM_014812.3
p.V1082A
c.3245T>C
2 papers
NM_014812.3
p.P1018P
c.3054C>T
1 paper
NM_014812.3
p.L1102R
c.3305T>G
1 paper
NM_014812.3
p.R1105I
c.3314G>T
1 paper
NM_014812.3
p.S994C
c.2980A>T
1 paper
NM_014812.3
p.A1117V
c.3350C>T
1 paper
NM_014812.3
p.S981Y
c.2942C>A
1 paper
NM_014812.3
p.S1123A
c.3367T>G
1 paper
NM_014812.3
p.K1136_P1137del1
c.3407_3409delGTT
1 paper
NM_014812.3
p.G1140R
c.3418G>C
1 paper
NM_014812.3
p.G1140R
c.3418G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."