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

2 papers

NM_001319944.2

p.L405F

c.1215G>T

Surrounding Variants

1 paper

NM_001319944.2

p.L405F

c.1215G>C

1 paper

NM_001319944.2

p.S406N

c.1217G>A

1 paper

NM_001319944.2

p.R395H

c.1184G>A

1 paper

NM_001319944.2

p.T392A

c.1174A>G

1 paper

NM_001319944.2

p.V423I

c.1267G>A

1 paper

NM_001319944.2

p.L434F

c.1302G>C

1 paper

NM_001319944.2

p.L434F

c.1302G>T

1 paper

NM_001319944.2

p.Q444E

c.1330C>G

1 paper

NM_001319944.2

p.L382L

c.1144C>T

1 paper

NM_001319944.2

p.V379I

c.1135G>A

1 paper

NM_001319944.2

p.A374V

c.1121C>T

1 paper

NM_001319944.2

p.Q364H

c.1092A>C