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

6 papers

NM_018249.6

p.I524_C528del5

c.1570_1583del15

Surrounding Variants

1 paper

NM_018249.6

p.S529C

c.1586C>G

1 paper

NM_018249.6

p.Q531*

c.1591C>T

1 paper

NM_018249.6

p.E526*

c.1576G>T

1 paper

NM_018249.6

p.E526K

c.1576G>A

1 paper

NM_018249.6

p.G535_S536insA

c.1603_1607ins3

1 paper

NM_018249.6

p.G535_S536insFs

c.1605_1606insT

1 paper

NM_018249.6

p.L516P

c.1547T>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.F496L

c.1486T>C

1 paper

NM_018249.6

p.L493delFs

c.1477delG

1 paper

NM_018249.6

p.D490G

c.1469A>G