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

1–12 of 121 variants

5 papers

NM_001385079.1

p.S334P

c.1000T>C

4 papers

NM_001385079.1

p.S300P

c.898T>C

3 papers

NM_001130690.3

p.F300L

c.898T>C

3 papers

NM_001130690.3

p.F300L

c.900C>G

3 papers

NM_001130690.3

p.F300L

c.900C>A

3 papers

NM_001130690.3

p.F334L

c.1000T>C

2 papers

NM_001385079.1

p.A39P

c.115G>C

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

2 papers

NM_001385079.1

p.V515fs

c.1543_1544fs

2 papers

NM_001130690.3

p.F334L

c.1002T>G