PEF1
penta-EF-hand domain containing 1
Summary
This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and may modulate its function in Ca(2+) signaling. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 1.[provided by RefSeq, May 2010]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs757745336 | 1:32,096,240 | T/C | — | uncertain significance |
| rs2521919349 | 1:32,096,281 | G/T | — | uncertain significance |
| rs146006007 | 1:32,096,296 | C/T | — | uncertain significance |
| rs549808725 | 1:32,096,357 | T/C | — | uncertain significance |
| rs755186565 | 1:32,096,375 | G/A | — | uncertain significance |
| rs139896724 | 1:32,096,386 | C/T | — | uncertain significance |
| rs144874149 | 1:32,098,120 | T/C | — | uncertain significance |
| rs140422275 | 1:32,098,137 | C/T | — | uncertain significance |
| rs765386131 | 1:32,098,200 | T/C | — | uncertain significance |
| rs147722531 | 1:32,098,212 | C/T | — | uncertain significance |
| rs143340788 | 1:32,098,801 | T/C | — | uncertain significance |
| rs1043312412 | 1:32,098,822 | T/C | — | uncertain significance |
| rs781584359 | 1:32,098,843 | T/C | — | uncertain significance |
| rs1640164194 | 1:32,098,858 | G/A | — | uncertain significance |
| rs770948880 | 1:32,098,869 | C/A | — | uncertain significance |
| rs750063064 | 1:32,098,907 | G/A | — | uncertain significance |
| rs756072857 | 1:32,100,957 | T/A | — | uncertain significance |
| rs2521964616 | 1:32,100,982 | C/T | — | uncertain significance |
| rs1475319446 | 1:32,101,024 | G/C | — | uncertain significance |
| rs7546297 | 1:32,106,494 | A/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.