Varaico: Literature-Extracted Genetic Variants

Gene:CEP135

CEP135

145 papers

RefSeq Summary

This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in th...

Gene Aliases

HGNC Name

centrosomal protein 135

HGNC Previous Symbol

KIAA0635

Papers
RefSeq ID
Protein change
DNA change
1–12 of 234 variants
8 papers
NM_025009.5
p.D455V
c.1364A>T
5 papers
NM_025009.5
p.Q324delFs
c.970delC
4 papers
NM_025009.5
p.S997L
c.2990C>T
3 papers
NM_025009.5
p.Q324fs
c.970_971fs
3 papers
NM_025009.5
p.R908*
c.2722C>T
3 papers
NM_025009.5
p.S947P
c.2839T>C
3 papers
NM_025009.5
p.R955*
c.2863C>T
3 papers
NM_025009.5
p.K1071*
c.3211A>T
3 papers
NM_025009.5
p.R1115C
c.3343C>T
2 papers
NM_025009.5
p.M1I
c.3G>A
2 papers
NM_025009.5
p.A111S
c.331G>T
2 papers
NM_025009.5
p.P176Q
c.527C>A
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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."