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.D1337N

c.4009G>A

Surrounding Variants

1 paper

NM_001395426.1

p.L1338F

c.4012C>T

1 paper

NM_001395426.1

p.Q1335*

c.4003C>T

1 paper

NM_001395426.1

p.K1332E

c.3994A>G

1 paper

NM_001395426.1

p.S1331N

c.3992G>A

3 papers

NM_001395426.1

p.T1322R

c.3965C>G

1 paper

NM_001395426.1

p.T1322Splc

c.3965-3A>T

1 paper

NM_001198834.5

p.E1290K

c.3868G>A

11 papers

NM_001395426.1

p.T1359A

c.4075A>G

3 papers

NM_001395426.1

p.T1322R

c.3965C>G

1 paper

NM_001395426.1

p.R1318K

c.3953G>A

1 paper

NM_001395426.1

p.A1309A

c.3927T>C

1 paper

NM_001198834.5

p.R1226C

c.3676C>T