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

1–12 of 401 variants

21 papers

NM_018249.6

p.R1335Splc

c.4005-15A>G

18 papers

NM_018249.6

p.Y82*

c.246T>A

16 papers

NM_018249.6

p.Y82*

c.246T>G

13 papers

NM_018249.6

p.R1481*

c.4441C>T

12 papers

NM_018249.6

p.E234*

c.700G>T

9 papers

NM_018249.6

p.R1335Splc

c.4005-1G>A

8 papers

NM_018249.6

p.E1516*

c.4546G>T

8 papers

NM_018249.6

p.R1558*

c.4672C>T

7 papers

NM_018249.6

p.Q175_A176delFs

c.524_528del5

7 papers

NM_018249.6

p.R1335Splc

c.4005-9A>G

6 papers

NM_018249.6

p.I524_C528del5

c.1570_1583del15

5 papers

NM_018249.6

p.E289Q

c.865G>C