Varaico: Literature-Extracted Genetic Variants

Gene:CEP135
Variant:p.R426T

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.R426T
c.1277G>C
Surrounding Variants
1 paper
NM_025009.5
p.M427_R428insA
c.1279_1283ins3
1 paper
NM_025009.5
p.L429L
c.1285C>T
1 paper
NM_025009.5
p.R418*
c.1252C>T
2 papers
NM_025009.5
p.E417fs
c.1249_1250fs
1 paper
NM_025009.5
p.R436*
c.1306C>T
2 papers
NM_025009.5
p.R438K
c.1313G>A
1 paper
NM_025009.5
p.P440S
c.1318C>T
1 paper
NM_025009.5
p.R442C
c.1324C>T
1 paper
NM_025009.5
p.G449D
c.1346G>A
1 paper
NM_025009.5
p.R454G
c.1360C>G
1 paper
NM_025009.5
p.R454*
c.1360C>T
8 papers
NM_025009.5
p.D455V
c.1364A>T
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