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.E503K

c.1507G>A

Surrounding Variants

2 papers

NM_001319944.2

p.A542T

c.1624G>A

2 papers

NM_001319944.2

p.A547T

c.1639G>A

1 paper

NM_001319944.2

p.E480K

c.1438G>A

1 paper

NM_001319944.2

p.R470Q

c.1409G>A

1 paper

NM_001319944.2

p.H454Q

c.1362T>A

1 paper

NM_001319944.2

p.H454Q

c.1362T>G

1 paper

NM_001319944.2

p.S556A

c.1666T>G

1 paper

NM_001319944.2

p.S561N

c.1682G>A

1 paper

NM_001319944.2

p.R575Q

c.1724G>A

1 paper

NM_001319944.2

p.S578L

c.1733C>T

1 paper

NM_001319944.2

p.S595L

c.1784C>T

1 paper

NM_001319944.2

p.A605V

c.1814C>T