Varaico: Literature-Extracted Genetic Variants

Gene:PDE12
Variant:p.S266delFs

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.S266delFs
c.797_798delGT
Surrounding Variants
1 paper
NM_177966.7
p.V269fs
c.805_806fs
1 paper
NM_177966.7
p.S261S
c.783C>T
1 paper
NM_177966.7
p.F258C
c.773T>G
1 paper
NM_177966.7
p.G243A
c.728G>C
1 paper
NM_177966.7
p.R296L
c.887G>T
1 paper
NM_177966.7
p.S299P
c.895T>C
1 paper
NM_177966.7
p.P221_S222del2
c.661_665del6
1 paper
NM_177966.7
p.Y318C
c.953A>G
1 paper
NM_177966.7
p.G211D
c.632G>A
1 paper
NM_177966.7
p.E209K
c.625G>A
1 paper
NM_177966.7
p.K202R
c.605A>G
1 paper
NM_177966.7
p.N333S
c.998A>G
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