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.H302Y

c.904C>T

Surrounding Variants

4 papers

NM_001385079.1

p.S300P

c.898T>C

1 paper

NM_001385079.1

p.D307insFs

c.920_921ins4

1 paper

NM_001385079.1

p.V295G

c.884T>G

1 paper

NM_001385079.1

p.V295M

c.883G>A

1 paper

NM_006661.4

p.E17K

c.49G>A

1 paper

NM_001385079.1

p.D292H

c.874G>C

1 paper

NM_001385079.1

p.E331D

c.993A>T

1 paper

NM_001385079.1

p.E331D

c.993A>C