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

4 papers

NM_018249.6

p.R1372*

c.4114C>T

Surrounding Variants

1 paper

NM_018249.6

p.E1366*

c.4096G>T

1 paper

NM_018249.6

p.D1361E

c.4083T>G

1 paper

NM_018249.6

p.D1361E

c.4083T>A

2 papers

NM_018249.6

p.E1352G

c.4055A>G

1 paper

NM_018249.6

p.S1350F

c.4049C>T

1 paper

NM_018249.6

p.R1335S

c.4005G>T

1 paper

NM_018249.6

p.R1335S

c.4005G>C

9 papers

NM_018249.6

p.R1335Splc

c.4005-1G>A

1 paper

NM_018249.6

p.R1335W

c.4003A>T

7 papers

NM_018249.6

p.R1335Splc

c.4005-9A>G

21 papers

NM_018249.6

p.R1335Splc

c.4005-15A>G

4 papers

NM_018249.6

p.R1335fs

c.4003_4004fs