FKBP7
FKBP prolyl isomerase 7
Summary
The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. Members of this family exhibit PPIase activity and function as molecular chaperones. A similar protein in mouse is located in the endoplasmic reticulum and binds calcium. [provided by RefSeq, Jul 2008]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs532347988 | 2:179,330,631 | C/G | — | uncertain significance |
| rs201963440 | 2:179,334,386 | T/A | — | uncertain significance |
| rs764764625 | 2:179,334,409 | C/T | — | uncertain significance |
| rs2468753771 | 2:179,334,428 | G/A | — | uncertain significance |
| rs144237903 | 2:179,334,440 | C/T | — | uncertain significance |
| rs568213007 | 2:179,334,441 | G/A | — | uncertain significance |
| rs1684796173 | 2:179,334,470 | A/G | — | uncertain significance |
| rs140122519 | 2:179,334,494 | G/A | — | uncertain significance |
| rs7598228 | 2:179,339,606 | T/G | intron variant | — |
| rs767017967 | 2:179,341,828 | C/G | — | uncertain significance |
| rs758740203 | 2:179,341,849 | G/A | — | uncertain significance |
| rs777902307 | 2:179,341,870 | T/C | — | uncertain significance |
| rs1202729519 | 2:179,341,876 | G/T | — | uncertain significance |
| rs200153839 | 2:179,341,914 | T/C | — | uncertain significance |
| rs752796490 | 2:179,341,927 | C/T | — | uncertain significance |
| rs770277809 | 2:179,343,193 | T/A | — | uncertain significance |
| rs761140719 | 2:179,343,217 | T/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.