Varaico: Literature-Extracted Genetic Variants

Gene:PDE10A
Variant:p.F334L

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
3 papers
NM_001130690.3
p.F334L
c.1000T>C
Surrounding Variants
1 paper
NM_001130690.3
p.F334C
c.1001T>G
2 papers
NM_001130690.3
p.F334L
c.1002T>G
2 papers
NM_001130690.3
p.F334L
c.1002T>A
1 paper
NM_001385079.1
p.L575V
c.1723T>G
1 paper
NM_001385079.1
p.D569Y
c.1705G>T
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.F300L
c.898T>C
1 paper
NM_001385079.1
p.A554A
c.1662A>C
1 paper
NM_001385079.1
p.V658_Q659del2
c.1972_1976del6
1 paper
NM_001385079.1
p.A681T
c.2041G>A
1 paper
NM_001385079.1
p.A691T
c.2071G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."