Varaico: Literature-Extracted Genetic Variants

PDE4DIP

267 papers

RefSeq Summary

The protein encoded by this gene serves to anchor phosphodiesterase 4D to the Golgi/centrosome region of the cell. Defects in this gene may be a cause of myeloproliferative disorder (MBD) associated w...

Pfam Domains

Cnn_1Naa 5–77UCSCCentrosomin N-terminal motif 1

SMYLE_Naa 114–359UCSCShort myomegalin-like EB1 binding proteins, N-terminal domain

CC_CDK5RAP2aa 814–938UCSCCDK5 regulatory subunit-associated protein 2-like, coiled coil

CC_CDK5RAP2aa 951–1075UCSCCDK5 regulatory subunit-associated protein 2-like, coiled coil

Olduvaiaa 1652–1722UCSCOlduvai domain

Gene Aliases

HGNC Name

phosphodiesterase 4D interacting protein

HGNC Previous Symbol

CMYA2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

14 papers

NM_001395426.1

p.E127K

c.379G>A

Surrounding Variants

1 paper

NM_001395426.1

p.V119insFs

c.355_356insT

1 paper

NM_001395426.1

p.E116D

c.348G>T

1 paper

NM_001395426.1

p.L117delFs

c.349delC

1 paper

NM_001395426.1

p.I115T

c.344T>C

1 paper

NM_001395426.1

p.I115S

c.344T>G

1 paper

NM_001395426.1

p.W139*

c.416G>A

1 paper

NM_001395426.1

p.R113_N114Splc

c.340-25C>T

2 papers

NM_001395426.1

p.D141N

c.421G>A

1 paper

NM_001395426.1

p.D141E

c.423T>A

1 paper

NM_001395426.1

p.E143*

c.427G>T

1 paper

NM_001395426.1

p.L145I

c.433C>A

1 paper

NM_001395426.1

p.R155C

c.463C>T