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

1 paper

NM_001395426.1

p.R20S

c.60A>T

Surrounding Variants

1 paper

NM_001395426.1

p.T21M

c.62C>T

1 paper

NM_001395426.1

p.E16G

c.47A>G

14 papers

NM_001395426.1

p.D13G

c.38A>G

1 paper

NM_001395426.1

p.A11V

c.32C>T

1 paper

NM_001395426.1

p.A11insFs

c.32dupC

1 paper

NM_001395426.1

p.Y9D

c.25T>G

1 paper

NM_001395426.1

p.Y9insFs

c.25_26insG

1 paper

NM_001395426.1

p.D8insFs

c.23_24insG

1 paper

NM_001395426.1

p.R7Splc

c.21-16G>T

1 paper

NM_001395426.1

p.A26Splc

c.77-24T>G

1 paper

NM_001395426.1

p.R34R

c.100C>A

1 paper

NM_001395426.1

p.R34Q

c.101G>A