KCNIP1
potassium voltage-gated channel interacting protein 1
Summary
This gene encodes a member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium binding EF-hand proteins. They associate with Kv4 alpha subunits to form native Kv4 channel complexes. The encoded protein may regulate rapidly inactivating (A-type) currents, and hence neuronal membrane excitability, in response to changes in the concentration of intracellular calcium. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs115425245 | 5:169,854,161 | A/G | downstream gene variant | — |
| rs113814045 | 5:169,896,699 | C/T | intron variant | — |
| rs11957313 | 5:169,950,394 | G/A | intron variant | — |
| rs11960314 | 5:170,059,227 | G/A | regulatory region variant | — |
| rs781715532 | 5:170,145,791 | A/G | — | uncertain significance |
| rs200199892 | 5:170,148,891 | G/C | — | uncertain significance |
| rs1763869544 | 5:170,149,717 | G/A | — | pathogenic |
| rs140281030 | 5:170,149,739 | T/G | — | uncertain significance |
| rs1764250659 | 5:170,159,813 | G/T | — | uncertain significance |
| rs1764251818 | 5:170,159,841 | T/C | — | uncertain significance |
| rs201527993 | 5:170,159,894 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.