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

9 papers

NM_001395426.1

p.A1757T

c.5269G>A

Surrounding Variants

1 paper

NM_001395426.1

p.Q1756Q

c.5268G>A

1 paper

NM_001395426.1

p.P1751S

c.5251C>T

1 paper

NM_001395426.1

p.N1749delFs

c.5245delA

1 paper

NM_001395426.1

p.P1745S

c.5233C>T

1 paper

NM_001395426.1

p.K1734R

c.5201A>G

1 paper

NM_001395426.1

p.D1709Splc

c.5126-30T>C

1 paper

NM_001395426.1

p.D1709Splc

c.5125+40C>G

2 papers

NM_001395426.1

p.D1709Y

c.5125G>T

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