EIPR1
EARP complex and GARP complex interacting protein 1
Summary
This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alignment of this gene to genomic sequence data suggests that this gene resides on chromosome 2 rather than chromosome 11. [provided by RefSeq, Dec 2008]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs775391718 | 2:3,193,221 | C/T | — | uncertain significance |
| rs781124556 | 2:3,196,243 | C/T | — | uncertain significance |
| rs766526306 | 2:3,196,339 | G/A | — | uncertain significance |
| rs148363289 | 2:3,197,850 | G/A | — | likely benign |
| rs138522728 | 2:3,197,861 | A/C | — | uncertain significance |
| rs139935994 | 2:3,200,739 | G/A | — | uncertain significance |
| rs202069415 | 2:3,200,775 | G/A | — | uncertain significance |
| rs540817016 | 2:3,244,909 | C/T | — | — |
| rs201697774 | 2:3,261,095 | T/C | — | uncertain significance |
| rs142389201 | 2:3,261,152 | A/G | — | uncertain significance |
| rs200794439 | 2:3,261,194 | C/T | — | uncertain significance |
| rs34901404 | 2:3,321,789 | C/T | intron variant | — |
| rs199764167 | 2:3,341,815 | C/T | — | uncertain significance |
| rs148303243 | 2:3,341,859 | T/C | — | uncertain significance |
| rs11127417 | 2:3,357,993 | G/A | — | — |
| rs751854345 | 2:3,358,362 | G/A | — | uncertain significance |
| rs2528108698 | 2:3,358,380 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.