Varaico: Literature-Extracted Genetic Variants

Gene:CEP135
Variant:p.S61R

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.S61R
c.183T>G
Surrounding Variants
1 paper
NM_025009.5
p.E60G
c.179A>G
1 paper
NM_025009.5
p.S53_K59del0
c.159_176del18
1 paper
NM_025009.5
p.N75_R80insFs
c.224_240dup17
1 paper
NM_025009.5
p.R48W
c.142C>T
1 paper
NM_025009.5
p.R48_Q49del1
c.143_145delGGC
1 paper
NM_025009.5
p.L47delFs
c.140delT
1 paper
NM_025009.5
p.R77G
c.229A>G
1 paper
NM_025009.5
p.L78*
c.233T>A
1 paper
NM_025009.5
p.H42L
c.125A>T
1 paper
NM_025009.5
p.T43_T44del2
c.127_131del6
1 paper
NM_025009.5
p.N82S
c.245A>G
1 paper
NM_025009.5
p.N82K
c.246T>A
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