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

2 papers

NM_001395426.1

p.D1709Y

c.5125G>T

Surrounding Variants

1 paper

NM_001395426.1

p.D1709Splc

c.5125+40C>G

1 paper

NM_001395426.1

p.V1692D

c.5075T>A

1 paper

NM_001395426.1

p.I1691M

c.5073A>G

1 paper

NM_001395426.1

p.A1685D

c.5054C>A

1 paper

NM_001395426.1

p.L1683P

c.5048T>C

1 paper

NM_001395426.1

p.E1682E

c.5046A>G

1 paper

NM_001395426.1

p.S1680del1

c.5038_5039delTCT

1 paper

NM_001395426.1

p.S1677T

c.5029T>A

1 paper

NM_001395426.1

p.T1676S

c.5027C>G

1 paper

NM_001395426.1

p.T1676S

c.5026A>T

1 paper

NM_001395426.1

p.A1665S

c.4993G>T

2 papers

NM_001395426.1

p.H1664R

c.4991A>G