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.T355_L356insT

c.1063_1067ins3

Surrounding Variants

3 papers

NM_001395426.1

p.R361H

c.1082G>A

1 paper

NM_001395426.1

p.E362D

c.1086G>C

4 papers

NM_001395426.1

p.S341L

c.1022C>T

1 paper

NM_001002811.3

p.A435T

c.1303G>A

1 paper

NM_001395426.1

p.L335Fs

c.1003delinsGAFs

1 paper

NM_001395426.1

p.V369I

c.1105G>A

1 paper

NM_001395426.1

p.E371K

c.1111G>A

1 paper

NM_001395426.1

p.Q373R

c.1118A>G

1 paper

NM_001395426.1

p.Q386R

c.1157A>G

1 paper

NM_001395426.1

p.S387delins

c.1160delinsG

1 paper

NM_001395426.1

p.Q391P

c.1172A>C

1 paper

NM_001395426.1

p.H393_S394Splc

c.1179+16G>A