Varaico: Literature-Extracted Genetic Variants

PDE10A

80 papers

RefSeq Summary

The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. ...

Pfam Domains

GAFaa 367–510UCSCGAF domain

GAFaa 542–688UCSCGAF domain

PDEase_Iaa 790–1021UCSC3'5'-cyclic nucleotide phosphodiesterase

Gene Aliases

HGNC Name

phosphodiesterase 10A

HGNC Alias Name

cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001385079.1

p.A78S

c.232G>T

Surrounding Variants

1 paper

NM_001385079.1

p.G80G

c.240C>T

1 paper

NM_001385079.1

p.G89R

c.265G>C

1 paper

NM_001385079.1

p.L100_A101insGAG

c.298_302ins9

1 paper

NM_001385079.1

p.R107W

c.319C>T

1 paper

NM_001385079.1

p.E33_G46del14

c.97_137del42

1 paper

NM_001385079.1

p.G46A

c.137G>C

1 paper

NM_001385079.1

p.S110insFs

c.328dupT

2 papers

NM_001385079.1

p.A39P

c.115G>C

1 paper

NM_001385079.1

p.C25_R35del11

c.73_104del33

1 paper

NM_001385079.1

p.P34ins1

c.100_101insGAG

1 paper

NM_001385079.1

p.E33K

c.97G>A

1 paper

NM_001385079.1

p.P123S

c.367C>T