CES1
carboxylesterase 1
Summary
This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. Mutations of this gene cause carboxylesterase 1 deficiency. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs145088728 | 16:55,844,440 | C/T | — | uncertain significance |
| rs776903994 | 16:55,844,509 | T/C | — | uncertain significance |
| rs770895591 | 16:55,844,516 | T/C | — | uncertain significance |
| rs2244613 | 16:55,844,609 | G/T | intron variant | — |
| rs146595460 | 16:55,844,909 | T/C | — | conflicting classifications of pathogenicity |
| rs757978769 | 16:55,846,853 | C/T | — | uncertain significance |
| rs2543929872 | 16:55,846,868 | C/A | — | uncertain significance |
| rs4114840 | 16:55,850,062 | C/A | intron variant | — |
| rs1306644657 | 16:55,850,840 | C/T | — | uncertain significance |
| rs767343447 | 16:55,853,460 | G/A | — | uncertain significance |
| rs1833249 | 16:55,854,971 | T/A | — | — |
| rs191580671 | 16:55,855,163 | A/C | intron variant | — |
| rs2543953238 | 16:55,855,312 | C/T | — | uncertain significance |
| rs200227274 | 16:55,855,414 | G/A | — | uncertain significance |
| rs762888069 | 16:55,857,505 | C/T | — | uncertain significance |
| rs1215603162 | 16:55,857,523 | C/T | — | uncertain significance |
| rs71647871 | 16:55,857,570 | C/T | missense variant | pathogenic |
| rs121912777 | 16:55,857,573 | C/T | missense variant | pathogenic |
| rs2543960692 | 16:55,857,588 | A/G | — | uncertain significance |
| rs746768840 | 16:55,857,591 | A/G | — | uncertain significance |
| rs1184420349 | 16:55,860,080 | T/C | — | uncertain significance |
| rs1383282598 | 16:55,860,091 | G/A | — | uncertain significance |
| rs761009187 | 16:55,860,143 | T/C | — | uncertain significance |
| rs766772874 | 16:55,860,148 | T/C | — | uncertain significance |
| rs375565319 | 16:55,860,177 | T/A | — | likely benign |
| rs762443072 | 16:55,860,205 | C/A | — | uncertain significance |
| rs144406244 | 16:55,861,616 | T/C | intron variant | — |
| rs8192935 | 16:55,861,794 | A/G | intron variant | — |
| rs1386387941 | 16:55,862,683 | G/T | — | uncertain significance |
| rs752490655 | 16:55,862,724 | G/A | — | uncertain significance |
| rs757329400 | 16:55,862,733 | G/A | — | uncertain significance |
| rs2543978689 | 16:55,862,745 | C/T | — | uncertain significance |
| rs372817758 | 16:55,862,782 | C/T | — | uncertain significance |
| rs751739988 | 16:55,862,800 | G/A | — | uncertain significance |
| rs549984975 | 16:55,862,877 | G/A | — | uncertain significance |
| rs116258771 | 16:55,866,937 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.