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.E1230G

c.3689A>G

Surrounding Variants

1 paper

NM_001395426.1

p.E1231_N1233delFs

c.3691_3697del7

1 paper

NM_001395426.1

p.H1228Y

c.3682C>T

1 paper

NM_001395426.1

p.Q1227*

c.3679C>T

1 paper

NM_001395426.1

p.G1221D

c.3662G>A

1 paper

NM_001395426.1

p.I1212I

c.3636T>C

1 paper

NM_001395426.1

p.H1256R

c.3767A>G

1 paper

NM_001395426.1

p.Q1257R

c.3770A>G

4 papers

NM_001395426.1

p.E1203K

c.3607G>A

1 paper

NM_001395426.1

p.H1179N

c.3535C>A

1 paper

NM_001395426.1

p.Q1172E

c.3514C>G

1 paper

NM_001395426.1

p.S1162I

c.3485G>T

1 paper

NM_001395426.1

p.T1155N

c.3464C>A