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

6 papers

NM_001395426.1

p.W626*

c.1877G>A

Surrounding Variants

6 papers

NM_001395426.1

p.W626*

c.1878G>A

13 papers

NM_001395426.1

p.Q622*

c.1864C>T

1 paper

NM_001395426.1

p.Q616Q

c.1848G>A

1 paper

NM_001395426.1

p.R637_W638del2

c.1909_1913del6

1 paper

NM_001395426.1

p.V614L

c.1840G>C

1 paper

NM_001395426.1

p.V614L

c.1840G>T

1 paper

NM_001395426.1

p.K640M

c.1919A>T

1 paper

NM_001395426.1

p.L612Q

c.1835T>A

1 paper

NM_001395426.1

p.E641A

c.1922A>C

1 paper

NM_001395426.1

p.Q642E

c.1924C>G

1 paper

NM_001395426.1

p.R608R

c.1824G>A

1 paper

NM_001395426.1

p.L649delFs

c.1946delT