Varaico: Literature-Extracted Genetic Variants

Gene:CEP135
Variant:p.R1115C

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.R1115C
c.3343C>T
Surrounding Variants
1 paper
NM_025009.5
p.M1114I
c.3342G>A
1 paper
NM_025009.5
p.M1114I
c.3342G>C
1 paper
NM_025009.5
p.M1114I
c.3342G>T
1 paper
NM_025009.5
p.S1126F
c.3377C>T
1 paper
NM_025009.5
p.S1130F
c.3389C>T
1 paper
NM_025009.5
p.V1140L
c.3418G>T
1 paper
NM_025009.5
p.R1107R
c.3319C>A
1 paper
NM_025009.5
p.E1106delFs
c.3317delA
1 paper
NM_025009.5
p.Q1099*
c.3295C>T
1 paper
NM_025009.5
p.A1095fs
c.3283_3284fs
1 paper
NM_025009.5
p.D1094_A1095delFs
c.3282_3283delTG
1 paper
NM_025009.5
p.L1089I
c.3265T>A
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