Varaico: Literature-Extracted Genetic Variants

Gene:CEP135
Variant:p.K104R

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.K104R
c.311A>G
Surrounding Variants
2 papers
NM_025009.5
p.A111S
c.331G>T
1 paper
NM_025009.5
p.R112delFs
c.335_336delGT
1 paper
NM_025009.5
p.R112H
c.335G>A
1 paper
NM_025009.5
p.H126_K127delFs
c.378_379delTA
1 paper
NM_025009.5
p.K127delFs
c.381delA
1 paper
NM_025009.5
p.K129fs
c.385_386fs
1 paper
NM_025009.5
p.Q143_L145del3
c.427_434del9
1 paper
NM_025009.5
p.Q143insFs
c.427_428insA
1 paper
NM_025009.5
p.Q144E
c.430C>G
1 paper
NM_025009.5
p.V153I
c.457G>A
1 paper
NM_025009.5
p.E84G
c.251A>G
1 paper
NM_025009.5
p.N82K
c.246T>A
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