Varaico: Literature-Extracted Genetic Variants

Gene:CEP170

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
1–12 of 125 variants
9 papers
NM_014812.3
p.A694D
c.2081C>A
6 papers
NM_014812.3
p.S792*
c.2375C>G
6 papers
NM_014812.3
p.S792*
c.2375C>A
4 papers
NM_014812.3
p.T484T
c.1452T>C
3 papers
NM_014812.3
p.G213S
c.637G>A
3 papers
NM_014812.3
p.T738I
c.2213C>T
3 papers
NM_014812.3
p.R1357H
c.4070G>A
2 papers
NM_014812.3
p.A631A
c.1893A>G
2 papers
NM_014812.3
p.T953I
c.2858C>T
2 papers
NM_014812.3
p.P1018P
c.3054C>T
2 papers
NM_014812.3
p.P1051L
c.3152C>T
2 papers
NM_014812.3
p.T1327I
c.3980C>T
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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."