Varaico: Literature-Extracted Genetic Variants

Gene:CEP135
Variant:p.E175_P176delFs

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.E175_P176delFs
c.524_528del5
Surrounding Variants
1 paper
NM_025009.5
p.D174Y
c.520G>T
2 papers
NM_025009.5
p.P176Q
c.527C>A
1 paper
NM_025009.5
p.R170C
c.508C>T
1 paper
NM_025009.5
p.S180S
c.540T>A
1 paper
NM_025009.5
p.V182insFs
c.545dupT
1 paper
NM_025009.5
p.Q189insFs
c.566_567insA
1 paper
NM_025009.5
p.G158Splc
c.473-1G>C
1 paper
NM_025009.5
p.A196T
c.586G>A
1 paper
NM_025009.5
p.D197N
c.589G>A
2 papers
NM_025009.5
p.L198R
c.593T>G
1 paper
NM_025009.5
p.V201_A202insFs
c.603_604insG
1 paper
NM_025009.5
p.A202T
c.604G>A
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