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

12 papers

NM_018249.6

p.E234*

c.700G>T

Surrounding Variants

1 paper

NM_018249.6

p.E234Q

c.700G>C

1 paper

NM_018249.6

p.K241T

c.722A>C

1 paper

NM_018249.6

p.E242A

c.725A>C

1 paper

NM_018249.6

p.I223T

c.668T>C

1 paper

NM_018249.6

p.P250L

c.749C>T

1 paper

NM_018249.6

p.P250insFs

c.748dupC

1 paper

NM_018249.6

p.L259R

c.776T>G

1 paper

NM_018249.6

p.R260*

c.778C>T

1 paper

NM_018249.6

p.P266L

c.797C>T

1 paper

NM_018249.6

p.E273K

c.817G>A

1 paper

NM_018249.6

p.E273G

c.818A>G

2 papers

NM_018249.6

p.E273insFs

c.817_818dupGA