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.G1538G

c.4614G>C

Surrounding Variants

1 paper

NM_001198834.5

p.I1478V

c.4432A>G

1 paper

NM_001395426.1

p.Y1553C

c.4658A>G

1 paper

NM_001395426.1

p.L1554L

c.4662A>G

1 paper

NM_001395426.1

p.I1558delFs

c.4672delA

1 paper

NM_001395426.1

p.I1558fs

c.4672_4673fs

1 paper

NM_001395426.1

p.R1570W

c.4708C>T

1 paper

NM_001395426.1

p.A1572A

c.4716A>G

1 paper

NM_001395426.1

p.L1583I

c.4747C>A

3 papers

NM_001395426.1

p.Y1591Y

c.4773C>T

9 papers

NM_001395426.1

p.E1598G

c.4793A>G

1 paper

NM_001198834.5

p.A1535T

c.4603G>A

1 paper

NM_001395426.1

p.T1616A

c.4846A>G