Varaico: Literature-Extracted Genetic Variants

Gene:CEP135
Variant:p.M1insFs

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.M1insFs
c.3dupG
Surrounding Variants
1 paper
NM_025009.5
p.M1T
c.2T>C
1 paper
NM_025009.5
p.M1insFs
c.2dupT
1 paper
NM_025009.5
p.M1delFs
c.2delT
2 papers
NM_025009.5
p.M1I
c.3G>A
1 paper
NM_025009.5
p.K8insFs
c.23dupA
1 paper
NM_025009.5
p.I10V
c.28A>G
1 paper
NM_025009.5
p.R13S
c.39G>C
1 paper
NM_025009.5
p.R15delFs
c.43_44delAG
1 paper
NM_025009.5
p.R15K
c.44G>A
1 paper
NM_025009.5
p.D17insFs
c.50dupA
1 paper
NM_025009.5
p.L25V
c.73C>G
1 paper
NM_025009.5
p.H42L
c.125A>T
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