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.E457A

c.1370A>C

Surrounding Variants

1 paper

NM_001395426.1

p.K439R

c.1316A>G

1 paper

NM_001395426.1

p.A438D

c.1313C>A

14 papers

NM_001395426.1

p.A438V

c.1313C>T

1 paper

NM_001395426.1

p.L435Q

c.1304T>A

1 paper

NM_001395426.1

p.L435L

c.1303C>T

1 paper

NM_001395426.1

p.Q430delFs

c.1289_1290delAG

1 paper

NM_001395426.1

p.R429*

c.1285C>T

1 paper

NM_001395426.1

p.R426T

c.1277G>C

1 paper

NM_001395426.1

p.Q411Q

c.1233G>A

1 paper

NM_001395426.1

p.S395S

c.1185A>T

1 paper

NM_001395426.1

p.H393_S394Splc

c.1179+16G>A

1 paper

NM_001395426.1

p.Q391P

c.1172A>C