Varaico: Literature-Extracted Genetic Variants

Gene:PDE2A
Variant:p.P291_L292Splc

PDE2A

117 papers

Pfam Domains

GAFaa 241–377UCSCGAF domain
GAFaa 409–548UCSCGAF domain
PDEase_Iaa 655–888UCSC3'5'-cyclic nucleotide phosphodiesterase

Gene Aliases

HGNC Name

phosphodiesterase 2A

HGNC Previous Name

phosphodiesterase 2A, cGMP-stimulated

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002599.5
p.P291_L292Splc
c.873+1G>A
Surrounding Variants
2 papers
NM_002599.5
p.S275_C276insFs
c.825_826insA
1 paper
NM_002599.5
p.Q273R
c.818A>G
1 paper
NM_002599.5
p.A259V
c.776C>T
1 paper
NM_002599.5
p.K248R
c.743A>G
1 paper
NM_002599.5
p.S305T
c.913T>A
1 paper
NM_002599.5
p.Q307K
c.919C>A
1 paper
NM_002599.5
p.D310V
c.929A>T
2 papers
NM_002599.5
p.D310E
c.930C>G
2 papers
NM_002599.5
p.D310E
c.930C>A
1 paper
NM_002599.5
p.S313S
c.939C>T
1 paper
NM_002599.5
p.G235W
c.703G>T
2 papers
NM_002599.5
p.R226C
c.676C>T
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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."