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.N346D

c.1036A>G

Surrounding Variants

1 paper

NM_001130690.3

p.Q82P

c.245A>C

1 paper

NM_001385079.1

p.Q343E

c.1027C>G

1 paper

NM_001385079.1

p.D344_L354insFs

c.1031_1061dup31

1 paper

NM_001385079.1

p.I358insFs

c.1073dupT

1 paper

NM_001385079.1

p.G366*

c.1096G>T

2 papers

NM_001130690.3

p.Y107C

c.320A>G

2 papers

NM_001130690.3

p.A116P

c.346G>C

2 papers

NM_001130690.3

p.A116P

c.346G>C