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.R1535Splc

c.4605-2A>T

Surrounding Variants

1 paper

NM_018249.6

p.R1535S

c.4605G>C

3 papers

NM_018249.6

p.V1540L

c.4618G>T

4 papers

NM_018249.6

p.V1540L

c.4618G>C

1 paper

NM_018249.6

p.L1557F

c.4669C>T

8 papers

NM_018249.6

p.R1558*

c.4672C>T

3 papers

NM_018249.6

p.R1535Splc

c.4604+1G>C

2 papers

NM_018249.6

p.V1526fs

c.4576_4577fs

1 paper

NM_018249.6

p.Q1524R

c.4571A>G

1 paper

NM_018249.6

p.H1518Q

c.4554C>G

8 papers

NM_018249.6

p.E1516*

c.4546G>T

1 paper

NM_018249.6

p.R1507M

c.4520G>T

13 papers

NM_018249.6

p.R1481*

c.4441C>T