Varaico: Literature-Extracted Genetic Variants

Gene:CEP135
Variant:p.K1043N

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.K1043N
c.3129A>C
Surrounding Variants
1 paper
NM_025009.5
p.K1043N
c.3129A>T
1 paper
NM_025009.5
p.E1044Q
c.3130G>C
1 paper
NM_025009.5
p.E1044fs
c.3130_3131fs
1 paper
NM_025009.5
p.K1043fs
c.3127_3128fs
1 paper
NM_025009.5
p.S1051S
c.3153C>A
1 paper
NM_025009.5
p.E1053*
c.3157G>T
1 paper
NM_025009.5
p.Q1059_E1063del5
c.3175_3188del15
1 paper
NM_025009.5
p.E1069_S1070insAC
c.3205_3209ins6
3 papers
NM_025009.5
p.K1071*
c.3211A>T
1 paper
NM_025009.5
p.L1072Splc
c.3215+1G>T
2 papers
NM_025009.5
p.L1072Splc
c.3215+2T>C
1 paper
NM_025009.5
p.R1077W
c.3229C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."