PAFAH1B2
platelet activating factor acetylhydrolase 1b catalytic subunit 2
Summary
Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12419272 | 11:117,015,516 | C/T | — | — |
| rs539030095 | 11:117,018,764 | T/G | — | — |
| rs187669805 | 11:117,021,097 | C/G | intron variant | — |
| rs190584084 | 11:117,021,480 | C/T | intron variant | — |
| rs150351376 | 11:117,023,199 | G/T | — | benign |
| rs144600500 | 11:117,027,948 | A/G | intron variant | — |
| rs1871757 | 11:117,030,581 | T/G | — | — |
| rs12281009 | 11:117,032,959 | A/G | intron variant | — |
| rs139390798 | 11:117,034,331 | G/A | intron variant | — |
| rs7112513 | 11:117,037,361 | A/G | regulatory region variant | — |
| rs1382589217 | 11:117,038,254 | G/A | — | uncertain significance |
| rs752992388 | 11:117,038,270 | C/T | — | uncertain significance |
| rs186808413 | 11:117,042,408 | T/C | — | likely benign |
| rs190517409 | 11:117,042,423 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.