NOVA1
NOVA alternative splicing regulator 1
Summary
This gene encodes a neuron-specific RNA-binding protein, a member of the Nova family of paraneoplastic disease antigens, that is recognized and inhibited by paraneoplastic antibodies. These antibodies are found in the sera of patients with paraneoplastic opsoclonus-ataxia, breast cancer, and small cell lung cancer. Alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1458629333 | 14:26,917,175 | T/A | — | uncertain significance |
| rs773024612 | 14:26,917,476 | G/C | — | uncertain significance |
| rs752004813 | 14:26,917,553 | G/A | — | uncertain significance |
| rs1566426011 | 14:26,917,664 | G/T | — | uncertain significance |
| rs771051381 | 14:26,917,983 | G/C | — | uncertain significance |
| rs376072746 | 14:26,918,082 | C/A | — | uncertain significance |
| rs12101183 | 14:26,935,305 | G/A | intron variant | — |
| rs752960890 | 14:26,941,551 | G/A | — | uncertain significance |
| rs139209051 | 14:26,941,566 | G/A | — | uncertain significance |
| rs757576804 | 14:26,949,248 | C/A | — | uncertain significance |
| rs6575005 | 14:26,954,078 | T/C | intron variant | — |
| rs178184 | 14:26,979,193 | T/G | intron variant | — |
| rs178183 | 14:26,979,412 | T/A | — | — |
| rs2502257472 | 14:27,066,527 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.