PCBD2
pterin-4 alpha-carbinolamine dehydratase 2
Summary
Predicted to enable 4-alpha-hydroxytetrahydrobiopterin dehydratase activity. Involved in positive regulation of DNA-templated transcription. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs319598 | 5:134,240,235 | T/C | regulatory region variant | — |
| rs2479502792 | 5:134,240,905 | G/A | — | uncertain significance |
| rs2479510652 | 5:134,246,034 | A/G | — | likely benign |
| rs546855178 | 5:134,246,050 | C/T | — | uncertain significance |
| rs959624320 | 5:134,246,144 | C/G | — | uncertain significance |
| rs78165052 | 5:134,250,596 | C/T | intron variant | — |
| rs41321145 | 5:134,262,072 | A/G | coding sequence variant | — |
| rs115015503 | 5:134,275,064 | A/C | intron variant | — |
| rs189762558 | 5:134,279,889 | C/T | intron variant | — |
| rs920377342 | 5:134,290,531 | C/A | — | — |
| rs1273247512 | 5:134,294,746 | C/G | — | uncertain significance |
| rs756545275 | 5:134,296,354 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.