AGBL4
AGBL carboxypeptidase 4
Summary
Predicted to enable metallocarboxypeptidase activity and tubulin binding activity. Predicted to be involved in C-terminal protein deglutamylation; defense response to virus; and protein side chain deglutamylation. Predicted to act upstream of or within several processes, including axonal transport of mitochondrion; positive regulation of ubiquitin-dependent protein catabolic process; and regulation of blastocyst development. Located in Golgi apparatus; centriole; and ciliary basal body. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants62 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201412334 | 1:48,999,892 | C/T | — | uncertain significance |
| rs1250930230 | 1:48,999,895 | C/T | — | uncertain significance |
| rs774502535 | 1:48,999,918 | G/A | — | uncertain significance |
| rs748376932 | 1:48,999,922 | G/T | — | uncertain significance |
| rs1045280598 | 1:48,999,927 | C/T | — | uncertain significance |
| rs60977321 | 1:49,005,351 | C/T | — | benign |
| rs956099366 | 1:49,005,362 | C/T | — | uncertain significance |
| rs527882258 | 1:49,035,904 | T/A | — | — |
| rs1569896210 | 1:49,052,769 | C/T | — | uncertain significance |
| rs555192599 | 1:49,052,790 | G/C | — | uncertain significance |
| rs138271641 | 1:49,052,819 | C/T | — | benign |
| rs753216988 | 1:49,052,820 | G/A | — | uncertain significance |
| rs899125154 | 1:49,056,566 | C/T | — | uncertain significance |
| rs376731078 | 1:49,056,567 | G/A | — | uncertain significance |
| rs369243059 | 1:49,056,585 | T/C | — | uncertain significance |
| rs201706593 | 1:49,056,595 | C/T | — | uncertain significance |
| rs771499735 | 1:49,100,185 | C/A | — | uncertain significance |
| rs765165380 | 1:49,119,040 | T/A | — | uncertain significance |
| rs764317600 | 1:49,119,057 | T/C | — | uncertain significance |
| rs544951425 | 1:49,119,075 | C/T | — | uncertain significance |
| rs375321264 | 1:49,119,120 | A/G | — | uncertain significance |
| rs41289226 | 1:49,119,127 | A/G | — | benign |
| rs373001734 | 1:49,128,852 | C/T | — | likely benign |
| rs201991102 | 1:49,128,902 | C/T | — | uncertain significance |
| rs75333004 | 1:49,128,904 | C/T | — | benign |
| rs6694008 | 1:49,155,578 | G/C | intron variant | — |
| rs72681087 | 1:49,293,008 | T/G | intron variant | — |
| rs1648189824 | 1:49,332,890 | G/A | — | uncertain significance |
| rs764055566 | 1:49,332,909 | A/C | — | likely benign |
| rs4926784 | 1:49,502,302 | T/C | intron variant | — |
| rs182495409 | 1:49,509,101 | C/T | upstream gene variant | — |
| rs80256865 | 1:49,511,248 | G/A | — | benign |
| rs1443868857 | 1:49,511,364 | C/A | — | uncertain significance |
| rs3934240 | 1:49,511,424 | A/G | — | benign |
| rs770755809 | 1:49,711,519 | A/G | — | likely benign |
| rs241465 | 1:49,738,938 | G/C | — | — |
| rs241464 | 1:49,751,992 | T/G | — | — |
| rs241473 | 1:49,772,452 | A/T | intron variant | — |
| rs241460 | 1:49,782,772 | A/G | intron variant | — |
| rs35466861 | 1:49,803,103 | A/G | intron variant | — |
| rs147247472 | 1:49,907,573 | G/A | intron variant | — |
| rs1415985 | 1:49,930,749 | T/C | intron variant | — |
| rs1591726 | 1:49,963,473 | T/G | — | — |
| rs1167311 | 1:49,996,959 | G/A | intron variant | — |
| rs897258395 | 1:50,162,978 | C/T | — | likely benign |
| rs369139471 | 1:50,163,035 | G/A | — | uncertain significance |
| rs1335956437 | 1:50,163,047 | T/G | — | uncertain significance |
| rs373937114 | 1:50,163,052 | G/A | — | uncertain significance |
| rs547705894 | 1:50,172,373 | T/C | — | — |
| rs12137221 | 1:50,182,298 | C/T | intron variant | — |
| rs11205641 | 1:50,185,075 | A/G | intron variant | — |
| rs2103909 | 1:50,249,699 | G/C | — | — |
| rs4926831 | 1:50,290,101 | C/T | intron variant | — |
| rs7532746 | 1:50,300,091 | T/C | intron variant | — |
| rs1274264883 | 1:50,317,127 | G/T | — | uncertain significance |
| rs10788920 | 1:50,331,725 | T/C | intron variant | — |
| rs6659830 | 1:50,346,500 | G/A | regulatory region variant | — |
| rs56184305 | 1:50,379,591 | C/G | — | — |
| rs9436441 | 1:50,403,811 | T/C | intron variant | — |
| rs548871224 | 1:50,413,757 | A/T | — | — |
| rs537962582 | 1:50,414,246 | T/G | — | — |
| rs9659092 | 1:50,443,589 | A/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.