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.Q175R

c.524A>G

Surrounding Variants

1 paper

NM_018249.6

p.Q175fs

c.523_524fs

4 papers

NM_018249.6

p.Q175fs

c.523_524fs

1 paper

NM_018249.6

p.A174S

c.520G>T

7 papers

NM_018249.6

p.Q175_A176delFs

c.524_528del5

1 paper

NM_018249.6

p.E179insFs

c.535_536insA

1 paper

NM_018249.6

p.E179A

c.536A>C

1 paper

NM_018249.6

p.F182L

c.544T>C

1 paper

NM_018249.6

p.F182L

c.546T>G

1 paper

NM_018249.6

p.F182L

c.546T>A

3 papers

NM_018249.6

p.E186fs

c.556_557fs

1 paper

NM_018249.6

p.T187M

c.560C>T

3 papers

NM_018249.6

p.E186_T187delFs

c.558_559delTC