PELP1
proline, glutamate and leucine rich protein 1
Summary
This gene encodes a transcription factor which coactivates transcription of estrogen receptor responsive genes and corepresses genes activated by other hormone receptors or sequence-specific transcription factors. Expression of this gene is regulated by both members of the estrogen receptor family. This gene may be involved in the progression of several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs372758488 | 17:4,575,277 | G/A | — | likely benign |
| rs2508117937 | 17:4,575,432 | C/T | — | uncertain significance |
| rs1272443490 | 17:4,575,438 | C/T | — | uncertain significance |
| rs2508120036 | 17:4,575,624 | C/T | — | uncertain significance |
| rs1163266123 | 17:4,575,839 | G/A | — | uncertain significance |
| rs144331998 | 17:4,575,925 | G/A | — | likely benign |
| rs529623797 | 17:4,576,040 | G/A | — | uncertain significance |
| rs753719637 | 17:4,576,049 | G/A | — | uncertain significance |
| rs1597445699 | 17:4,576,172 | G/C | — | uncertain significance |
| rs958032388 | 17:4,576,241 | G/T | — | uncertain significance |
| rs754406795 | 17:4,576,244 | C/T | — | uncertain significance |
| rs566672712 | 17:4,576,332 | G/A | — | uncertain significance |
| rs2508127618 | 17:4,576,583 | G/A | — | uncertain significance |
| rs2508127844 | 17:4,576,622 | G/A | — | likely benign |
| rs2508127916 | 17:4,576,631 | G/A | — | uncertain significance |
| rs750841196 | 17:4,579,340 | A/C | — | uncertain significance |
| rs2508144174 | 17:4,579,410 | C/T | — | likely benign |
| rs183273323 | 17:4,585,630 | G/A | intron variant | — |
| rs2507538468 | 17:4,586,150 | G/C | — | uncertain significance |
| rs2507538689 | 17:4,586,196 | G/A | — | uncertain significance |
| rs61250563 | 17:4,587,726 | A/G | intron variant | — |
| rs2507557445 | 17:4,594,274 | C/G | — | uncertain significance |
| rs184696458 | 17:4,606,866 | C/T | downstream gene variant | — |
| rs1913672966 | 17:4,607,347 | C/G | — | uncertain significance |
| rs2150569859 | 17:4,607,403 | C/T | — | likely benign |
| rs1371316604 | 17:4,607,487 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.