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.R753delFs

c.2259delA

Surrounding Variants

1 paper

NM_001395426.1

p.L756Q

c.2267T>A

1 paper

NM_001395426.1

p.Q759*

c.2275C>T

4 papers

NM_001395426.1

p.R747H

c.2240G>A

1 paper

NM_001395426.1

p.P761H

c.2282C>A

1 paper

NM_001395426.1

p.L743*

c.2228T>A

1 paper

NM_001395426.1

p.E738E

c.2214A>G

1 paper

NM_001395426.1

p.M737V

c.2209A>G

1 paper

NM_001395426.1

p.R774C

c.2320C>T

1 paper

NM_001395426.1

p.L775P

c.2324T>C

1 paper

NM_001395426.1

p.E730V

c.2189A>T

1 paper

NM_001395426.1

p.K777delFs

c.2331delA

1 paper

NM_001395426.1

p.K777fs

c.2329_2330fs