Varaico: Literature-Extracted Genetic Variants

Gene:PP2D1
Variant:p.E257*

PP2D1

37 papers

Pfam Domains

PP2Caa 262–482UCSCProtein phosphatase 2C

Gene Aliases

HGNC Name

protein phosphatase 2C like domain containing 1

HGNC Previous Symbol

C3orf48

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001252657.2
p.E257*
c.769G>T
Surrounding Variants
1 paper
NM_001252657.2
p.V254_F255delFs
c.762_763delAC
2 papers
NM_001252657.2
p.A260T
c.778G>A
1 paper
NM_001252657.2
p.F251S
c.752T>C
1 paper
NM_001252657.2
p.Q246*
c.736C>T
1 paper
NM_001252657.2
p.I269T
c.806T>C
1 paper
NM_001252657.2
p.M240delFs
c.718delT
1 paper
NM_001252657.2
p.A285V
c.854C>T
1 paper
NM_001252657.2
p.A215T
c.643G>A
1 paper
NM_001252657.2
p.S214L
c.641C>T
1 paper
NM_001252657.2
p.G209E
c.626G>A
1 paper
NM_001252657.2
p.G205C
c.613G>T
1 paper
NM_001252657.2
p.P199T
c.595C>A
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