Varaico: Literature-Extracted Genetic Variants

Gene:CEP135
Variant:p.S947P

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
Selected Variant
3 papers
NM_025009.5
p.S947P
c.2839T>C
Surrounding Variants
1 paper
NM_025009.5
p.A941insFs
c.2823dupT
3 papers
NM_025009.5
p.R955*
c.2863C>T
1 paper
NM_025009.5
p.S997_N999del3
c.2989_2996del9
1 paper
NM_025009.5
p.S997*
c.2990C>A
4 papers
NM_025009.5
p.S997L
c.2990C>T
1 paper
NM_025009.5
p.K998_L1000del3
c.2992_2999del9
1 paper
NM_025009.5
p.K1043fs
c.3127_3128fs
1 paper
NM_025009.5
p.K1043N
c.3129A>C
1 paper
NM_025009.5
p.K1043N
c.3129A>T
1 paper
NM_025009.5
p.E1044Q
c.3130G>C
1 paper
NM_025009.5
p.E1044fs
c.3130_3131fs
1 paper
NM_025009.5
p.S1051S
c.3153C>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."