FUCA2
alpha-L-fucosidase 2
Summary
This gene encodes a plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydrolysis of the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. This enzyme is essential for Helicobacter pylori adhesion to human gastric cancer cells. [provided by RefSeq, Aug 2010]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201420341 | 6:143,816,863 | G/C | — | uncertain significance |
| rs1397585225 | 6:143,816,927 | T/C | — | uncertain significance |
| rs549942763 | 6:143,819,361 | T/C | — | — |
| rs113752927 | 6:143,823,074 | A/G | — | benign |
| rs199718880 | 6:143,823,094 | T/G | — | uncertain significance |
| rs761512797 | 6:143,823,138 | A/C | — | uncertain significance |
| rs2482488108 | 6:143,823,142 | T/C | — | uncertain significance |
| rs199603636 | 6:143,823,256 | G/T | — | uncertain significance |
| rs111958168 | 6:143,823,266 | A/T | — | benign |
| rs1345621481 | 6:143,823,535 | T/A | — | uncertain significance |
| rs374985227 | 6:143,823,558 | T/A | — | uncertain significance |
| rs1251760636 | 6:143,823,617 | G/A | — | uncertain significance |
| rs190279990 | 6:143,824,589 | C/T | coding sequence variant | — |
| rs367663563 | 6:143,825,101 | G/A | — | uncertain significance |
| rs148846110 | 6:143,825,146 | T/A | — | uncertain significance |
| rs747178711 | 6:143,825,198 | G/A | — | uncertain significance |
| rs2482492682 | 6:143,825,252 | A/G | — | uncertain significance |
| rs111499802 | 6:143,825,394 | A/G | — | benign |
| rs555804857 | 6:143,826,246 | T/C | — | — |
| rs118021283 | 6:143,828,038 | G/A | coding sequence variant | — |
| rs150559460 | 6:143,828,170 | C/T | coding sequence variant | — |
| rs900426424 | 6:143,828,413 | C/T | — | uncertain significance |
| rs1780620766 | 6:143,828,430 | T/C | — | uncertain significance |
| rs144272583 | 6:143,828,538 | A/G | — | uncertain significance |
| rs114388392 | 6:143,828,543 | T/C | — | likely benign |
| rs193111410 | 6:143,829,052 | T/C | downstream gene variant | — |
| rs777309409 | 6:143,832,564 | C/T | — | uncertain significance |
| rs374410560 | 6:143,832,662 | G/A | — | uncertain significance |
| rs1314532581 | 6:143,832,669 | C/T | — | uncertain significance |
| rs778285303 | 6:143,832,698 | G/A | — | uncertain significance |
| rs375529300 | 6:143,832,710 | A/G | — | uncertain significance |
| rs146718489 | 6:143,833,150 | G/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.