PVALB
parvalbumin
Summary
The protein encoded by this gene is a high affinity calcium ion-binding protein that is structurally and functionally similar to calmodulin and troponin C. The encoded protein is thought to be involved in muscle relaxation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs73156247 | 22:37,196,023 | C/T | — | uncertain significance |
| rs73156248 | 22:37,196,027 | C/T | — | uncertain significance |
| rs2022068 | 22:37,199,806 | A/G | intron variant | — |
| rs192718308 | 22:37,203,032 | T/C | regulatory region variant | — |
| rs739031 | 22:37,208,149 | G/A | — | — |
| rs4820255 | 22:37,209,296 | G/A | — | — |
| rs567942924 | 22:37,209,708 | C/T | — | uncertain significance |
| rs377350741 | 22:37,209,785 | C/G | — | uncertain significance |
| rs147596087 | 22:37,211,148 | C/T | — | benign |
| rs137928260 | 22:37,211,163 | C/T | — | uncertain significance |
| rs74804322 | 22:37,211,219 | G/A | — | benign |
| rs748683112 | 22:37,211,274 | C/T | — | uncertain significance |
| rs145809194 | 22:37,211,289 | G/T | — | benign |
| rs773030993 | 22:37,212,997 | G/T | — | uncertain significance |
| rs201179009 | 22:37,217,579 | G/T | — | uncertain significance |
| rs55895628 | 22:37,217,580 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.