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.A9_P12delFs

c.25_35del11

Surrounding Variants

1 paper

NM_001385079.1

p.Q13*

c.37C>T

1 paper

NM_001385079.1

p.A9V

c.26C>T

1 paper

NM_001385079.1

p.G14_P15del2

c.40_44del6

1 paper

NM_001385079.1

p.R11_L16delFs

c.33_46del14

1 paper

NM_001385079.1

p.A9S

c.25G>T

1 paper

NM_001385079.1

p.L8F

c.22C>T

1 paper

NM_001385079.1

p.E6delFs

c.17delT

1 paper

NM_001385079.1

p.E6delFs

c.16delC

1 paper

NM_001385079.1

p.E5delFs

c.14_15delCT

1 paper

NM_001385079.1

p.E5fs

c.13_14fs

1 paper

NM_001385079.1

p.D21delFs

c.61delC

1 paper

NM_001385079.1

p.S3insFs

c.7dupA