VSNL1
visinin like 1
Summary
This gene is a member of the visinin/recoverin subfamily of neuronal calcium sensor proteins. The encoded protein is strongly expressed in granule cells of the cerebellum where it associates with membranes in a calcium-dependent manner and modulates intracellular signaling pathways of the central nervous system by directly or indirectly regulating the activity of adenylyl cyclase. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Known Variants6 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150275655 | 2:17,769,426 | C/A | regulatory region variant | — |
| rs1664603979 | 2:17,773,349 | A/G | — | uncertain significance |
| rs4038131 | 2:17,775,032 | A/T | — | — |
| rs2555086 | 2:17,792,830 | C/T | intron variant | — |
| rs1666075878 | 2:17,830,701 | A/G | — | uncertain significance |
| rs1263390811 | 2:17,830,867 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.