Varaico: Literature-Extracted Genetic Variants

Gene:CEP135
Variant:p.K333del1

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.K333del1
c.997_999delAAA
Surrounding Variants
2 papers
NM_025009.5
p.E335del1
c.1003_1004delGAA
1 paper
NM_025009.5
p.K333R
c.998A>G
2 papers
NM_025009.5
p.R331S
c.993A>C
2 papers
NM_025009.5
p.R331S
c.993A>T
1 paper
NM_025009.5
p.E335_V336del2
c.1003_1007del6
3 papers
NM_025009.5
p.Q324fs
c.970_971fs
5 papers
NM_025009.5
p.Q324delFs
c.970delC
1 paper
NM_025009.5
p.G345delFs
c.1033delG
1 paper
NM_025009.5
p.T320N
c.959C>A
1 paper
NM_025009.5
p.G345G
c.1035G>T
1 paper
NM_025009.5
p.K348M
c.1043A>T
1 paper
NM_025009.5
p.E313K
c.937G>A
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