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.A294V

c.881C>T

Surrounding Variants

1 paper

NM_018249.6

p.E297D

c.891G>T

1 paper

NM_018249.6

p.E297D

c.891G>C

1 paper

NM_018249.6

p.E301G

c.902A>G

1 paper

NM_018249.6

p.E303K

c.907G>A

1 paper

NM_018249.6

p.T308A

c.922A>G

2 papers

NM_018249.6

p.T308I

c.923C>T

1 paper

NM_018249.6

p.N312S

c.935A>G

1 paper

NM_018249.6

p.S313I

c.938G>T

2 papers

NM_018249.6

p.S329*

c.986C>G

2 papers

NM_018249.6

p.S329*

c.986C>A

1 paper

NM_018249.6

p.E331delFs

c.991delC

1 paper

NM_018249.6

p.E331fs

c.991_992fs