Varaico: Literature-Extracted Genetic Variants

Gene:PDE12
Variant:p.Q143P

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
Selected Variant
1 paper
NM_177966.7
p.Q143P
c.428A>C
Surrounding Variants
1 paper
NM_177966.7
p.D144E
c.432C>A
1 paper
NM_177966.7
p.D144E
c.432C>G
1 paper
NM_177966.7
p.D152H
c.454G>C
1 paper
NM_177966.7
p.E134V
c.401A>T
1 paper
NM_177966.7
p.Y155C
c.464A>G
1 paper
NM_177966.7
p.V157delins
c.470_471delinsTG
1 paper
NM_177966.7
p.E166K
c.496G>A
1 paper
NM_177966.7
p.L167V
c.499C>G
4 papers
NM_177966.7
p.V117A
c.350T>C
1 paper
NM_177966.7
p.D189_P190delFs
c.565_569del5
1 paper
NM_177966.7
p.A90T
c.268G>A
1 paper
NM_177966.7
p.K202R
c.605A>G
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