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.G136D

c.407G>A

Surrounding Variants

3 papers

NM_001319944.2

p.G136S

c.406G>A

1 paper

NM_001319944.2

p.E125A

c.374A>C

1 paper

NM_001319944.2

p.S115F

c.344C>T

1 paper

NM_001319944.2

p.P166L

c.497C>T

1 paper

NM_001319944.2

p.S183C

c.547A>T

1 paper

NM_001319944.2

p.V87I

c.259G>A

1 paper

NM_001319944.2

p.P210S

c.628C>T

6 papers

NM_001319944.2

p.S213N

c.638G>A

1 paper

NM_001319944.2

p.V234L

c.700G>C

1 paper

NM_001319944.2

p.V234L

c.700G>T

1 paper

NM_001319944.2

p.R237W

c.709C>T

1 paper

NM_001319944.2

p.P254T

c.760C>A