AGXT2
alanine--glyoxylate aminotransferase 2
Summary
The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Known Variants57 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs200627716 | 5:34,998,865 | G/A | — | uncertain significance |
| rs16899974 | 5:34,998,877 | C/A | missense variant | — |
| rs529653742 | 5:34,998,912 | G/A | — | uncertain significance |
| rs139418234 | 5:34,998,918 | G/A | — | uncertain significance |
| rs7717823 | 5:35,000,795 | C/T | intron variant | — |
| rs183958240 | 5:35,002,776 | A/G | intron variant | — |
| rs468327 | 5:35,003,112 | G/T | — | — |
| rs1290343200 | 5:35,003,894 | C/A | — | uncertain significance |
| rs1766325888 | 5:35,003,950 | A/G | — | uncertain significance |
| rs767177255 | 5:35,003,974 | T/C | — | likely benign |
| rs752126134 | 5:35,010,110 | C/T | — | uncertain significance |
| rs142368612 | 5:35,010,152 | C/T | — | uncertain significance |
| rs151278208 | 5:35,010,160 | A/G | — | uncertain significance |
| rs139344660 | 5:35,010,172 | T/A | — | uncertain significance |
| rs2477878186 | 5:35,010,250 | A/G | — | uncertain significance |
| rs114286107 | 5:35,013,058 | T/C | — | likely benign |
| rs1215851652 | 5:35,013,141 | T/C | — | uncertain significance |
| rs755015773 | 5:35,014,109 | G/A | — | uncertain significance |
| rs376208578 | 5:35,014,115 | A/G | — | uncertain significance |
| rs373380683 | 5:35,014,144 | C/T | — | uncertain significance |
| rs202180854 | 5:35,014,188 | A/G | — | uncertain significance |
| rs778805554 | 5:35,014,208 | C/A | — | uncertain significance |
| rs780748685 | 5:35,025,914 | G/C | — | uncertain significance |
| rs1176623522 | 5:35,025,930 | C/T | — | uncertain significance |
| rs766805931 | 5:35,026,561 | G/A | — | uncertain significance |
| rs572826520 | 5:35,026,570 | G/C | — | uncertain significance |
| rs561547784 | 5:35,026,591 | T/C | — | uncertain significance |
| rs638662 | 5:35,028,727 | A/G | intron variant | — |
| rs13174311 | 5:35,032,345 | C/T | downstream gene variant | — |
| rs78750779 | 5:35,032,881 | C/T | — | benign |
| rs760978202 | 5:35,032,909 | G/A | — | uncertain significance |
| rs779034786 | 5:35,032,923 | C/T | — | uncertain significance |
| rs2291700 | 5:35,033,243 | A/T | downstream gene variant | — |
| rs747942546 | 5:35,033,579 | T/C | — | uncertain significance |
| rs180749 | 5:35,033,605 | G/A | missense variant | — |
| rs144816749 | 5:35,033,631 | G/A | — | benign |
| rs201803834 | 5:35,035,343 | C/T | — | uncertain significance |
| rs201921000 | 5:35,035,360 | G/A | — | uncertain significance |
| rs946159094 | 5:35,037,055 | G/A | — | uncertain significance |
| rs372008937 | 5:35,037,058 | C/T | — | uncertain significance |
| rs1209814365 | 5:35,037,091 | C/G | — | uncertain significance |
| rs37369 | 5:35,037,115 | C/T | missense variant | affects |
| rs61742512 | 5:35,037,135 | C/T | — | benign |
| rs140156063 | 5:35,037,136 | G/A | — | benign |
| rs40199 | 5:35,037,681 | G/A | upstream gene variant | — |
| rs6892674 | 5:35,038,424 | C/T | upstream gene variant | — |
| rs37370 | 5:35,039,486 | C/G | missense variant | — |
| rs1425012895 | 5:35,039,496 | C/T | — | uncertain significance |
| rs1580610059 | 5:35,039,503 | G/C | — | likely benign |
| rs200350208 | 5:35,039,565 | G/A | — | uncertain significance |
| rs754018269 | 5:35,039,571 | G/T | — | uncertain significance |
| rs37371 | 5:35,040,230 | A/G | intron variant | — |
| rs766323433 | 5:35,040,720 | G/A | — | uncertain significance |
| rs28305 | 5:35,044,298 | C/G | downstream gene variant | — |
| rs37376 | 5:35,044,716 | G/C | downstream gene variant | — |
| rs40200 | 5:35,045,745 | A/G | downstream gene variant | — |
| rs37379 | 5:35,045,826 | A/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.