Varaico: Literature-Extracted Genetic Variants

CDK5RAP2

325 papers

RefSeq Summary

This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PC...

Pfam Domains

Cnn_1Naa 59–132UCSCCentrosomin N-terminal motif 1

CC_CDK5RAP2aa 491–614UCSCCDK5 regulatory subunit-associated protein 2-like, coiled coil

Pde4dipaa 1720–1853UCSCMyomegalin domain

Gene Aliases

HGNC Name

CDK5 regulatory subunit associated protein 2

HGNC Previous Symbol

MCPH3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018249.6

p.D490G

c.1469A>G

Surrounding Variants

1 paper

NM_018249.6

p.L493delFs

c.1477delG

1 paper

NM_018249.6

p.Y461C

c.1382A>G

2 papers

NM_018249.6

p.N459delFs

c.1376delT

2 papers

NM_018249.6

p.N459fs

c.1375_1376fs

1 paper

NM_018249.6

p.E454A

c.1361A>C

2 papers

NM_018249.6

p.R447C

c.1339C>T

1 paper

NM_018249.6

p.L439H

c.1316T>A

1 paper

NM_018249.6

p.D438V

c.1313A>T

1 paper

NM_018249.6

p.F496L

c.1486T>C

1 paper

NM_018249.6

p.F496L

c.1488C>G

1 paper

NM_018249.6

p.F496L

c.1488C>A

1 paper

NM_018249.6

p.L516P

c.1547T>C