NANOG
Nanog homeobox
Summary
The protein encoded by this gene is a DNA binding homeobox transcription factor involved in embryonic stem (ES) cell proliferation, renewal, and pluripotency. The encoded protein can block ES cell differentiation and can also autorepress its own expression in differentiating cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs140243232 | 12:7,942,325 | C/A | — | conflicting classifications of pathogenicity |
| rs11055786 | 12:7,945,384 | T/C | intron variant | — |
| rs1862861906 | 12:7,945,548 | T/C | — | uncertain significance |
| rs1862895995 | 12:7,947,416 | T/G | — | uncertain significance |
| rs2497488292 | 12:7,947,417 | C/A | — | uncertain significance |
| rs1862896148 | 12:7,947,429 | A/G | — | uncertain significance |
| rs772741569 | 12:7,947,617 | A/G | — | uncertain significance |
| rs778880176 | 12:7,947,685 | C/T | — | likely benign |
| rs60904055 | 12:7,949,358 | G/T | — | — |
| rs10772741 | 12:7,951,339 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.