NCS1
neuronal calcium sensor 1
Summary
This gene is a member of the neuronal calcium sensor gene family, which encode calcium-binding proteins expressed predominantly in neurons. The protein encoded by this gene regulates G protein-coupled receptor phosphorylation in a calcium-dependent manner and can substitute for calmodulin. The protein is associated with secretory granules and modulates synaptic transmission and synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs181582873 | 9:132,935,341 | G/A | regulatory region variant | — |
| rs4836694 | 9:132,939,792 | G/A | — | — |
| rs181377512 | 9:132,947,611 | A/G | intron variant | — |
| rs183365707 | 9:132,950,484 | A/C | intron variant | — |
| rs118042202 | 9:132,964,378 | C/T | regulatory region variant | — |
| rs7024934 | 9:132,967,288 | G/C | — | — |
| rs7847466 | 9:132,971,230 | G/C | — | — |
| rs372862177 | 9:132,980,207 | C/A | — | likely benign |
| rs2490464778 | 9:132,982,044 | C/T | — | uncertain significance |
| rs146218396 | 9:132,984,977 | A/G | — | uncertain significance |
| rs10119970 | 9:132,985,027 | C/T | — | benign |
| rs1406411459 | 9:132,985,370 | G/A | — | uncertain significance |
| rs201884594 | 9:132,985,446 | G/T | — | benign |
| rs782767025 | 9:132,988,752 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.