PPIL3
peptidylprolyl isomerase like 3
Summary
This gene encodes a member of the cyclophilin family. Cyclophilins catalyze the cis-trans isomerization of peptidylprolyl imide bonds in oligopeptides. They have been proposed to act either as catalysts or as molecular chaperones in protein-folding events. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2008]
Known Variants8 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1434992594 | 2:201,736,144 | T/C | — | uncertain significance |
| rs369410002 | 2:201,736,150 | T/C | — | uncertain significance |
| rs1374548857 | 2:201,736,165 | C/T | — | uncertain significance |
| rs2468824707 | 2:201,736,224 | G/A | — | uncertain significance |
| rs4035022 | 2:201,744,352 | G/A | downstream gene variant | — |
| rs181286373 | 2:201,744,457 | G/A | downstream gene variant | — |
| rs1163717502 | 2:201,746,175 | T/C | — | uncertain significance |
| rs16835425 | 2:201,750,683 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.