PRLR
prolactin receptor
Summary
This gene encodes a receptor for the anterior pituitary hormone, prolactin, and belongs to the type I cytokine receptor family. Prolactin-dependent signaling occurs as the result of ligand-induced dimerization of the prolactin receptor. Several alternatively spliced transcript variants encoding different membrane-bound and soluble isoforms have been described for this gene, which may function to modulate the endocrine and autocrine effects of prolactin in normal tissue and cancer. [provided by RefSeq, Feb 2011]
Known Variants43 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs199502944 | 5:35,049,437 | T/G | — | likely benign |
| rs185217270 | 5:35,053,452 | A/G | downstream gene variant | — |
| rs368429661 | 5:35,065,325 | C/T | — | uncertain significance |
| rs76500088 | 5:35,065,356 | G/A | — | benign |
| rs761415342 | 5:35,065,406 | C/G | — | uncertain significance |
| rs756210863 | 5:35,065,409 | C/G | — | likely benign |
| rs192521410 | 5:35,065,437 | C/G | — | uncertain significance |
| rs148096787 | 5:35,065,448 | C/T | — | likely benign |
| rs759977784 | 5:35,065,464 | G/C | — | likely benign |
| rs764216661 | 5:35,065,486 | G/T | — | uncertain significance |
| rs772553198 | 5:35,065,577 | G/A | — | uncertain significance |
| rs2478240677 | 5:35,065,606 | T/G | — | uncertain significance |
| rs62355478 | 5:35,065,650 | C/T | — | benign |
| rs199717939 | 5:35,065,724 | C/T | — | uncertain significance |
| rs201329185 | 5:35,065,765 | T/C | — | likely benign |
| rs773421411 | 5:35,065,861 | T/C | — | uncertain significance |
| rs139062782 | 5:35,065,864 | A/G | — | uncertain significance |
| rs534398516 | 5:35,065,905 | A/G | — | likely benign |
| rs1176242279 | 5:35,066,057 | T/G | — | uncertain significance |
| rs2478250887 | 5:35,066,120 | A/G | — | uncertain significance |
| rs565387396 | 5:35,066,176 | G/A | — | uncertain significance |
| rs748942718 | 5:35,068,322 | A/C | — | likely pathogenic |
| rs754974807 | 5:35,068,367 | G/A | — | pathogenic |
| rs2478271614 | 5:35,068,383 | C/T | — | uncertain significance |
| rs151203148 | 5:35,068,900 | C/T | — | uncertain significance |
| rs534848563 | 5:35,068,957 | C/T | — | uncertain significance |
| rs142331784 | 5:35,070,219 | C/T | — | benign |
| rs398122522 | 5:35,070,276 | T/C | missense variant | pathogenic |
| rs2478292697 | 5:35,070,303 | A/T | — | uncertain significance |
| rs370907111 | 5:35,070,325 | G/C | — | uncertain significance |
| rs762980564 | 5:35,072,697 | C/T | — | likely benign |
| rs376188691 | 5:35,072,709 | G/A | — | pathogenic |
| rs72478580 | 5:35,072,712 | T/G | missense variant | pathogenic |
| rs1372978753 | 5:35,072,762 | G/A | — | uncertain significance |
| rs138587215 | 5:35,085,162 | C/T | downstream gene variant | — |
| rs754923118 | 5:35,086,403 | C/T | — | uncertain significance |
| rs80254053 | 5:35,098,300 | G/A | intron variant | — |
| rs6861292 | 5:35,110,032 | C/T | — | — |
| rs184517664 | 5:35,144,273 | A/T | intron variant | — |
| rs143210911 | 5:35,174,922 | G/T | — | — |
| rs10941235 | 5:35,185,580 | C/A | — | — |
| rs574254582 | 5:35,188,843 | C/T | — | — |
| rs144514645 | 5:35,221,452 | T/C | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.