ABHD10
abhydrolase domain containing 10, depalmitoylase
Summary
This gene encodes a mitochondrially-localized enzyme that acts in liver cells as a hydrolase. The encoded protein removes glucuronide from mycophenolic acid acyl-glucuronide. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs368494068 | 3:111,697,933 | G/T | — | uncertain significance |
| rs2473208459 | 3:111,697,959 | C/A | — | likely benign |
| rs147373641 | 3:111,697,987 | C/T | — | uncertain significance |
| rs767941330 | 3:111,698,017 | C/T | — | uncertain significance |
| rs756498223 | 3:111,698,022 | A/G | — | uncertain significance |
| rs1332600556 | 3:111,698,039 | G/A | — | uncertain significance |
| rs546954754 | 3:111,698,048 | C/G | — | uncertain significance |
| rs749195101 | 3:111,700,805 | C/G | — | uncertain significance |
| rs768571210 | 3:111,700,810 | A/G | — | uncertain significance |
| rs201252030 | 3:111,705,800 | C/T | — | uncertain significance |
| rs544890959 | 3:111,705,873 | C/A | — | uncertain significance |
| rs372253346 | 3:111,710,231 | A/T | — | uncertain significance |
| rs375277759 | 3:111,710,243 | T/C | — | uncertain significance |
| rs1466712590 | 3:111,710,452 | G/A | — | uncertain significance |
| rs137983259 | 3:111,710,480 | A/T | — | uncertain significance |
| rs911251209 | 3:111,710,540 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.