Varaico: Literature-Extracted Genetic Variants

Gene:PDE12

PDE12

57 papers

Pfam Domains

PDE12-like_Naa 161–271UCSC2',5'-phosphodiesterase 12-like, N-terminal domain
Exo_endo_phosaa 298–418UCSCEndonuclease/Exonuclease/phosphatase family
Exo_endo_phosaa 298–599UCSCEndonuclease/Exonuclease/phosphatase family

Gene Aliases

HGNC Name

phosphodiesterase 12

HGNC Alias Symbols

DKFZp667B1218; 2'-PDE; 3635

Papers
RefSeq ID
Protein change
DNA change
1–12 of 53 variants
7 papers
NM_177966.7
p.R23W
c.67C>T
4 papers
NM_177966.7
p.V117A
c.350T>C
3 papers
NM_177966.7
p.E351A
c.1052A>C
2 papers
NM_177966.7
p.L435P
c.1304T>C
1 paper
NM_177966.7
p.E19K
c.55G>A
1 paper
NM_177966.7
p.T30T
c.90A>T
1 paper
NM_177966.7
p.R41P
c.122G>C
1 paper
NM_177966.7
p.S45L
c.134C>T
1 paper
NM_177966.7
p.D66A
c.197A>C
1 paper
NM_177966.7
p.V74delFs
c.221_222delTC
1 paper
NM_177966.7
p.L75P
c.224T>C
1 paper
NM_177966.7
p.A90T
c.268G>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."