REC114
REC114 meiotic recombination protein
Summary
The protein encoded by this gene is orthologous to the mouse meiotic recombination protein REC114, which is involved in DNA double-strand break formation during meiosis. The encoded protein is conserved in most eukaryotes and was first discovered and characterized in yeast. [provided by RefSeq, Feb 2017]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs72741460 | 15:73,735,523 | G/A | — | benign |
| rs1274587754 | 15:73,735,557 | C/G | — | uncertain significance |
| rs374263335 | 15:73,735,581 | G/C | — | uncertain significance |
| rs2505062147 | 15:73,735,585 | A/T | — | uncertain significance |
| rs1172575671 | 15:73,735,599 | C/G | — | uncertain significance |
| rs1026068674 | 15:73,735,621 | C/T | — | likely benign |
| rs1006527585 | 15:73,735,671 | T/A | — | likely benign |
| rs180876925 | 15:73,743,126 | C/A | — | — |
| rs11635553 | 15:73,749,608 | G/A | intron variant | — |
| rs192243024 | 15:73,766,186 | A/G | — | likely benign |
| rs140303255 | 15:73,766,211 | C/T | — | likely benign |
| rs371666355 | 15:73,766,246 | A/G | — | uncertain significance |
| rs567295257 | 15:73,780,436 | G/A | — | — |
| rs540050346 | 15:73,832,902 | C/T | — | uncertain significance |
| rs1894381872 | 15:73,843,342 | T/G | — | pathogenic |
| rs12102004 | 15:73,843,387 | G/A | — | benign |
| rs758634780 | 15:73,843,480 | C/T | — | likely benign |
| rs1894387648 | 15:73,843,496 | G/A | — | pathogenic |
| rs74488445 | 15:73,848,640 | C/T | — | benign |
| rs368274140 | 15:73,848,646 | C/T | — | uncertain significance |
| rs200297290 | 15:73,848,676 | G/T | — | uncertain significance |
| rs115150158 | 15:73,848,683 | C/T | — | uncertain significance |
| rs945045460 | 15:73,848,691 | G/A | — | likely benign |
| rs759379156 | 15:73,848,694 | G/A | — | likely benign |
| rs373443142 | 15:73,848,703 | G/A | — | uncertain significance |
| rs7171755 | 15:73,850,580 | G/A | downstream gene variant | — |
| rs200677035 | 15:73,852,106 | C/T | — | uncertain significance |
| rs199957073 | 15:73,852,118 | C/A | — | uncertain significance |
| rs1228276301 | 15:73,852,186 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.