FXR2
FMR1 autosomal homolog 2
Summary
The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X cognitive disability syndrome. [provided by RefSeq, Jul 2008]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs766537828 | 17:7,495,209 | G/A | — | uncertain significance |
| rs190521854 | 17:7,495,219 | T/C | — | likely benign |
| rs371887660 | 17:7,495,586 | G/C | — | uncertain significance |
| rs369982415 | 17:7,495,600 | G/A | — | uncertain significance |
| rs2508561825 | 17:7,495,660 | T/C | — | uncertain significance |
| rs749383202 | 17:7,495,667 | C/T | — | uncertain significance |
| rs554393214 | 17:7,495,843 | T/C | — | uncertain significance |
| rs777728725 | 17:7,495,851 | T/A | — | uncertain significance |
| rs572630875 | 17:7,495,860 | T/C | — | uncertain significance |
| rs561587687 | 17:7,495,898 | T/A | — | uncertain significance |
| rs966906910 | 17:7,496,014 | A/G | — | uncertain significance |
| rs749565841 | 17:7,496,056 | C/G | — | uncertain significance |
| rs771498964 | 17:7,496,059 | T/C | — | uncertain significance |
| rs756379874 | 17:7,496,095 | C/T | — | uncertain significance |
| rs199741916 | 17:7,496,096 | G/A | — | uncertain significance |
| rs779237587 | 17:7,496,104 | C/T | — | uncertain significance |
| rs779592847 | 17:7,496,123 | G/T | — | uncertain significance |
| rs766368865 | 17:7,496,128 | G/C | — | uncertain significance |
| rs200023716 | 17:7,496,152 | G/A | — | uncertain significance |
| rs766713738 | 17:7,496,340 | C/T | — | uncertain significance |
| rs527575662 | 17:7,496,341 | G/A | — | uncertain significance |
| rs770909127 | 17:7,496,374 | C/T | — | uncertain significance |
| rs201194889 | 17:7,496,382 | C/T | — | likely benign |
| rs537808536 | 17:7,496,391 | C/G | — | uncertain significance |
| rs371092074 | 17:7,496,407 | T/A | — | uncertain significance |
| rs375059555 | 17:7,496,409 | G/C | — | uncertain significance |
| rs61730843 | 17:7,496,411 | G/A | — | benign |
| rs778622471 | 17:7,496,422 | C/T | — | uncertain significance |
| rs201963372 | 17:7,496,436 | C/T | — | uncertain significance |
| rs200834291 | 17:7,496,497 | G/T | — | uncertain significance |
| rs761324408 | 17:7,496,744 | C/T | — | uncertain significance |
| rs781040872 | 17:7,496,772 | C/T | — | uncertain significance |
| rs375738238 | 17:7,496,922 | C/G | — | uncertain significance |
| rs373426339 | 17:7,496,927 | C/T | — | uncertain significance |
| rs375991949 | 17:7,498,070 | G/A | — | likely benign |
| rs148234406 | 17:7,501,022 | C/T | downstream gene variant | — |
| rs1221116816 | 17:7,506,273 | G/A | — | uncertain significance |
| rs200045144 | 17:7,506,314 | G/A | — | likely benign |
| rs1434629124 | 17:7,507,141 | T/C | — | uncertain significance |
| rs1393967593 | 17:7,507,379 | T/G | — | uncertain significance |
| rs149932962 | 17:7,508,197 | G/A | intron variant | — |
| rs1641546 | 17:7,511,757 | A/T | upstream gene variant | — |
| rs11078700 | 17:7,511,936 | A/C | — | — |
| rs11653545 | 17:7,512,074 | G/C | — | — |
| rs966072827 | 17:7,517,837 | G/A | — | uncertain significance |
| rs974541378 | 17:7,517,841 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.