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.E73_N74delFs

c.217_220del4

Surrounding Variants

1 paper

NM_018249.6

p.N74delFs

c.221delT

1 paper

NM_018249.6

p.E73fs

c.217_218fs

1 paper

NM_018249.6

p.L70_K71insFs

c.210_211insG

1 paper

NM_018249.6

p.Y82C

c.245A>G

16 papers

NM_018249.6

p.Y82*

c.246T>G

18 papers

NM_018249.6

p.Y82*

c.246T>A

1 paper

NM_018249.6

p.F83L

c.247T>C

1 paper

NM_018249.6

p.F83L

c.249C>G

1 paper

NM_018249.6

p.F83L

c.249C>A

1 paper

NM_018249.6

p.L84H

c.251T>A

1 paper

NM_018249.6

p.Q89P

c.266A>C

1 paper

NM_018249.6

p.H93D

c.277C>G