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

1–12 of 493 variants

14 papers

NM_001395426.1

p.D13G

c.38A>G

14 papers

NM_001395426.1

p.E127K

c.379G>A

14 papers

NM_001395426.1

p.A438V

c.1313C>T

13 papers

NM_001395426.1

p.Q622*

c.1864C>T

11 papers

NM_001395426.1

p.T1359A

c.4075A>G

10 papers

NM_001395426.1

p.Q785*

c.2353C>T

9 papers

NM_001395426.1

p.V167I

c.499G>A

9 papers

NM_001395426.1

p.E1598G

c.4793A>G

9 papers

NM_001395426.1

p.A1757T

c.5269G>A

7 papers

NM_001395426.1

p.L71I

c.211C>A

7 papers

NM_001395426.1

p.E84G

c.251A>G

7 papers

NM_001395426.1

p.E243fs

c.727_728fs