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

7 papers

NM_001395426.1

p.E84G

c.251A>G

Surrounding Variants

1 paper

NM_001395426.1

p.K83delFs

c.247delA

1 paper

NM_001395426.1

p.S87delFs

c.260delG

1 paper

NM_001395426.1

p.S87I

c.260G>T

1 paper

NM_001395426.1

p.L81V

c.241C>G

1 paper

NM_001198834.5

p.D14D

c.42C>T

5 papers

NM_001395426.1

p.R91L

c.272G>T

1 paper

NM_001395426.1

p.I92insFs

c.274dupA

2 papers

NM_001395426.1

p.I92I

c.276C>T

1 paper

NM_001395426.1

p.R98S

c.292C>A

1 paper

NM_001395426.1

p.S106R

c.316A>C

1 paper

NM_001395426.1

p.S106R

c.318C>A

1 paper

NM_001395426.1

p.S106R

c.318C>G