Varaico: Literature-Extracted Genetic Variants

Gene:CEP135
Variant:p.S904G

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
1 paper
NM_025009.5
p.S904G
c.2710A>G
Surrounding Variants
1 paper
NM_025009.5
p.E903Q
c.2707G>C
3 papers
NM_025009.5
p.R908*
c.2722C>T
1 paper
NM_025009.5
p.R908Q
c.2723G>A
1 paper
NM_025009.5
p.L909L
c.2725C>T
1 paper
NM_025009.5
p.L912delFs
c.2734delC
1 paper
NM_025009.5
p.R889H
c.2666G>A
1 paper
NM_025009.5
p.R922*
c.2764C>T
1 paper
NM_025009.5
p.E923K
c.2767G>A
1 paper
NM_025009.5
p.R924I
c.2771G>T
1 paper
NM_025009.5
p.K930insFs
c.2789dupA
1 paper
NM_025009.5
p.N876D
c.2626A>G
1 paper
NM_025009.5
p.Q933*
c.2797C>T
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