BCHE
butyrylcholinesterase
Summary
This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016]
Known Variants150 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs144542474 | 3:165,490,703 | G/C | — | uncertain significance |
| rs886058152 | 3:165,490,770 | A/G | — | uncertain significance |
| rs55849903 | 3:165,490,821 | C/T | — | likely benign |
| rs1712314911 | 3:165,490,854 | A/T | — | uncertain significance |
| rs55729116 | 3:165,490,885 | A/G | — | uncertain significance |
| rs55753636 | 3:165,490,889 | T/G | — | uncertain significance |
| rs886058153 | 3:165,490,933 | T/C | — | uncertain significance |
| rs3495 | 3:165,490,981 | C/T | 3 prime UTR variant | benign |
| rs139885577 | 3:165,490,990 | C/T | — | likely benign |
| rs886058154 | 3:165,490,996 | G/A | — | uncertain significance |
| rs145327297 | 3:165,491,031 | A/T | — | uncertain significance |
| rs886058155 | 3:165,491,118 | T/C | — | uncertain significance |
| rs1201751849 | 3:165,491,131 | C/A | — | uncertain significance |
| rs56084310 | 3:165,491,157 | G/A | — | uncertain significance |
| rs780688435 | 3:165,491,177 | C/A | — | uncertain significance |
| rs2473337963 | 3:165,491,179 | C/G | — | likely benign |
| rs148569288 | 3:165,491,185 | A/G | — | likely benign |
| rs142859898 | 3:165,491,198 | C/A | — | uncertain significance |
| rs771363401 | 3:165,491,209 | G/A | — | uncertain significance |
| rs750175032 | 3:165,491,243 | T/C | — | conflicting classifications of pathogenicity |
| rs752317854 | 3:165,491,279 | G/A | — | uncertain significance |
| rs1803274 | 3:165,491,280 | C/T | missense variant | pathogenic |
| rs779366544 | 3:165,491,296 | T/C | splice region variant | pathogenic |
| rs1004662085 | 3:165,491,302 | A/C | — | uncertain significance |
| rs56325145 | 3:165,491,308 | A/G | — | uncertain significance |
| rs2668206 | 3:165,493,454 | A/C | intron variant | — |
| rs116448250 | 3:165,496,065 | C/T | intron variant | — |
| rs829502 | 3:165,499,257 | A/T | — | — |
| rs2668196 | 3:165,502,709 | A/T | intron variant | — |
| rs829508 | 3:165,502,724 | C/A | — | — |
| rs114664527 | 3:165,503,930 | C/T | — | benign |
| rs1057516496 | 3:165,503,932 | C/A | — | pathogenic |
| rs940225352 | 3:165,503,950 | T/A | — | uncertain significance |
| rs780597019 | 3:165,503,974 | C/A | — | uncertain significance |
| rs747099939 | 3:165,503,975 | G/A | — | uncertain significance |
| rs1346212066 | 3:165,503,986 | G/A | — | uncertain significance |
| rs781374688 | 3:165,503,987 | C/G | — | uncertain significance |
| rs199660374 | 3:165,503,990 | G/A | — | uncertain significance |
| rs77586249 | 3:165,504,004 | A/G | — | uncertain significance |
| rs760485585 | 3:165,504,033 | A/T | — | pathogenic |
| rs1057517144 | 3:165,504,041 | G/A | stop gained | pathogenic |
| rs121918556 | 3:165,504,043 | T/A | missense variant | pathogenic |
| rs1322860279 | 3:165,504,061 | G/A | — | uncertain significance |
| rs371869257 | 3:165,504,073 | C/G | — | uncertain significance |
| rs1712948148 | 3:165,504,077 | T/A | — | uncertain significance |
| rs200768861 | 3:165,504,085 | G/C | — | uncertain significance |
| rs1057516482 | 3:165,504,089 | C/A | stop gained | pathogenic |
| rs142531034 | 3:165,504,105 | T/C | — | conflicting classifications of pathogenicity |
| rs55781031 | 3:165,504,220 | A/G | intron variant | — |
| rs1355534 | 3:165,505,857 | T/C | intron variant | — |
| rs4680662 | 3:165,516,550 | A/C | — | — |
| rs543041726 | 3:165,534,071 | T/A | — | — |
| rs4263329 | 3:165,539,610 | G/A | intron variant | — |
| rs1057517218 | 3:165,547,304 | C/A | — | pathogenic |
| rs1714861864 | 3:165,547,309 | A/G | — | uncertain significance |
| rs769316835 | 3:165,547,318 | A/G | — | uncertain significance |
| rs1553778017 | 3:165,547,325 | C/T | — | likely pathogenic |
| rs115017300 | 3:165,547,330 | G/A | — | uncertain significance |
| rs1255083217 | 3:165,547,336 | C/T | — | likely benign |
| rs200998515 | 3:165,547,360 | C/T | — | uncertain significance |
| rs150384913 | 3:165,547,384 | T/C | — | uncertain significance |
| rs530517316 | 3:165,547,468 | G/A | — | pathogenic |
| rs201490686 | 3:165,547,492 | C/T | — | uncertain significance |
| rs144987429 | 3:165,547,495 | T/G | — | conflicting classifications of pathogenicity |
| rs762341786 | 3:165,547,538 | G/T | stop gained | pathogenic |
| rs973429696 | 3:165,547,566 | T/A | — | uncertain significance |
| rs28933390 | 3:165,547,569 | C/A | missense variant | pathogenic |
| rs745364489 | 3:165,547,582 | G/A | — | pathogenic |
| rs1278095773 | 3:165,547,600 | G/A | — | likely pathogenic |
| rs1057517221 | 3:165,547,639 | C/A | stop gained | pathogenic |
| rs747438953 | 3:165,547,644 | C/A | — | uncertain significance |
| rs115129687 | 3:165,547,645 | C/G | — | pathogenic |
| rs1349421258 | 3:165,547,648 | A/G | — | uncertain significance |
| rs146936556 | 3:165,547,672 | T/C | — | uncertain significance |
| rs2473425291 | 3:165,547,674 | T/A | — | uncertain significance |
| rs373114728 | 3:165,547,680 | C/G | — | uncertain significance |
| rs372839550 | 3:165,547,685 | C/T | — | uncertain significance |
| rs534912670 | 3:165,547,693 | C/A | — | pathogenic |
| rs1714883746 | 3:165,547,700 | A/G | — | uncertain significance |
| rs1281700477 | 3:165,547,715 | G/T | — | uncertain significance |
| rs139312740 | 3:165,547,727 | G/C | — | uncertain significance |
| rs757948667 | 3:165,547,735 | G/T | — | uncertain significance |
| rs143300460 | 3:165,547,745 | G/A | — | uncertain significance |
| rs121918557 | 3:165,547,750 | A/T | missense variant | pathogenic |
| rs770337031 | 3:165,547,755 | G/T | — | uncertain significance |
| rs1553778114 | 3:165,547,792 | G/A | — | likely pathogenic |
| rs537434945 | 3:165,547,795 | T/A | — | uncertain significance |
| rs1057517265 | 3:165,547,807 | G/A | stop gained | pathogenic |
| rs104893684 | 3:165,547,818 | A/G | missense variant | pathogenic |
| rs1315434856 | 3:165,547,900 | C/A | — | uncertain significance |
| rs747196387 | 3:165,547,927 | C/A | stop gained | pathogenic |
| rs115624085 | 3:165,547,938 | T/C | missense variant | pathogenic |
| rs16849700 | 3:165,547,973 | C/G | — | conflicting classifications of pathogenicity |
| rs1398040946 | 3:165,548,009 | C/T | — | uncertain significance |
| rs28933389 | 3:165,548,010 | G/A | missense variant | pathogenic |
| rs768933717 | 3:165,548,036 | T/C | — | likely benign |
| rs2473426112 | 3:165,548,045 | C/T | — | pathogenic |
| rs140080572 | 3:165,548,065 | C/A | stop gained | pathogenic |
| rs1714913880 | 3:165,548,086 | T/G | — | uncertain significance |
| rs370077923 | 3:165,548,146 | T/C | — | conflicting classifications of pathogenicity |
Showing 100 of 150 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.