Varaico: Literature-Extracted Genetic Variants

Gene:PDE12
Variant:p.L435P

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
2 papers
NM_177966.7
p.L435P
c.1304T>C
Surrounding Variants
1 paper
NM_177966.7
p.Q436fs
c.1306_1307fs
1 paper
NM_177966.7
p.L435insFs
c.1303_1304dupCT
1 paper
NM_177966.7
p.L405V
c.1213C>G
1 paper
NM_177966.7
p.G372E
c.1115G>A
1 paper
NM_177966.7
p.L370L
c.1110C>G
1 paper
NM_177966.7
p.E366K
c.1096G>A
3 papers
NM_177966.7
p.E351A
c.1052A>C
1 paper
NM_177966.7
p.G341S
c.1021G>A
1 paper
NM_177966.7
p.N333S
c.998A>G
1 paper
NM_177966.7
p.Y318C
c.953A>G
1 paper
NM_177966.7
p.S299P
c.895T>C
1 paper
NM_177966.7
p.R296L
c.887G>T
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