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

2 papers

NM_001385079.1

p.V515fs

c.1543_1544fs

Surrounding Variants

1 paper

NM_001385079.1

p.C516insFs

c.1547_1548insGG

1 paper

NM_001385079.1

p.Q522insFs

c.1565dupA

1 paper

NM_001385079.1

p.Q522delFs

c.1565delT

1 paper

NM_001385079.1

p.L525_N526del2

c.1573_1577del6

1 paper

NM_001130690.3

p.R218W

c.652C>T

1 paper

NM_001385079.1

p.A472_L476delFs

c.1415_1427del13

1 paper

NM_001385079.1

p.T471I

c.1412C>T

1 paper

NM_001385079.1

p.S463_V464insCGG

c.1387_1391ins9

1 paper

NM_001385079.1

p.G452_T453del2

c.1354_1358del6

1 paper

NM_001385079.1

p.I443delFs

c.1327_1328delAT

1 paper

NM_001385079.1

p.D442N

c.1324G>A

1 paper

NM_001385079.1

p.L439_V440delFs

c.1315_1319del5