Varaico: Literature-Extracted Genetic Variants

Gene:PECR
Variant:p.R232*

PECR

24 papers

Pfam Domains

adh_short_C2aa 25–266UCSCEnoyl-(Acyl carrier protein) reductase

Gene Aliases

HGNC Name

peroxisomal trans-2-enoyl-CoA reductase

HGNC Alias Symbols

HSA250303; TERP; SDR29C1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018441.6
p.R232*
c.694C>T
Surrounding Variants
1 paper
NM_018441.6
p.S219R
c.657C>A
1 paper
NM_018441.6
p.G202E
c.605G>A
1 paper
NM_018441.6
p.Q257E
c.769C>G
1 paper
NM_018441.6
p.S258S
c.774G>A
1 paper
NM_018441.6
p.S271L
c.812C>T
1 paper
NM_018441.6
p.G164V
c.491G>T
1 paper
NM_018441.6
p.V159L
c.475G>C
3 papers
NM_018441.6
p.E149K
c.445G>A
1 paper
NM_018441.6
p.G283insFs
c.847_848insT
1 paper
NM_018441.6
p.K292K
c.876G>A
2 papers
NM_018441.6
p.F297L
c.889T>C
2 papers
NM_018441.6
p.F297L
c.891T>G
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