Varaico: Literature-Extracted Genetic Variants

CEP85

60 papers

RefSeq Summary

This gene encodes a protein that belongs to the centrosome-associated family of proteins. The centrosome is a subcellular organelle in the animal cell that functions as a microtubule organizing center...

Pfam Domains

CC4_CEP85aa 566–650UCSCCentrosomal protein of 85 kDa-like, CC4 coiled-coil domain

Gene Aliases

HGNC Name

centrosomal protein 85

HGNC Previous Symbol

CCDC21

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001319944.2

p.E32insFs

c.94_95insAG

Surrounding Variants

1 paper

NM_001319944.2

p.Q34insFs

c.100_101insAA

1 paper

NM_001319944.2

p.I38_F42ins1

c.114_125dup12

2 papers

NM_001319944.2

p.S19I

c.56G>T

1 paper

NM_001319944.2

p.R45C

c.133C>T

1 paper

NM_001319944.2

p.D70Splc

c.208+360G>A

3 papers

NM_001319944.2

p.S19I

c.56G>T