UBASH3A
ubiquitin associated and SH3 domain containing A
Summary
This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Known Variants60 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs146186753 | 21:43,824,076 | C/A | — | uncertain significance |
| rs779006157 | 21:43,824,096 | C/A | — | uncertain significance |
| rs201050988 | 21:43,824,104 | A/G | — | uncertain significance |
| rs773952076 | 21:43,824,122 | C/T | — | likely benign |
| rs771691537 | 21:43,824,124 | C/T | — | uncertain significance |
| rs200787839 | 21:43,824,155 | C/T | — | uncertain significance |
| rs771580886 | 21:43,826,449 | C/T | — | uncertain significance |
| rs140628973 | 21:43,826,453 | G/A | — | likely benign |
| rs2053048720 | 21:43,829,647 | G/T | — | uncertain significance |
| rs139067853 | 21:43,829,648 | C/T | — | likely benign |
| rs143623863 | 21:43,833,141 | C/A | — | uncertain significance |
| rs751418037 | 21:43,833,205 | C/T | — | uncertain significance |
| rs61733938 | 21:43,833,210 | G/T | — | benign |
| rs374740398 | 21:43,833,259 | G/A | — | likely benign |
| rs763870040 | 21:43,833,286 | C/T | — | uncertain significance |
| rs200940572 | 21:43,833,299 | T/C | — | uncertain significance |
| rs748490791 | 21:43,833,307 | G/A | — | uncertain significance |
| rs547906042 | 21:43,833,527 | G/A | — | uncertain significance |
| rs778240042 | 21:43,833,614 | C/T | — | uncertain significance |
| rs11203203 | 21:43,836,186 | G/A | downstream gene variant | — |
| rs9976767 | 21:43,836,390 | A/G | downstream gene variant | — |
| rs368043984 | 21:43,836,644 | G/A | — | uncertain significance |
| rs766808891 | 21:43,836,673 | T/C | — | uncertain significance |
| rs1180431219 | 21:43,836,698 | A/C | — | uncertain significance |
| rs552187767 | 21:43,838,546 | G/A | — | uncertain significance |
| rs1473719426 | 21:43,838,551 | T/G | — | uncertain significance |
| rs371391343 | 21:43,838,581 | C/T | — | benign |
| rs61735849 | 21:43,838,584 | T/C | — | benign |
| rs1198230601 | 21:43,838,624 | G/A | — | uncertain significance |
| rs77546520 | 21:43,840,089 | T/G | upstream gene variant | — |
| rs3788013 | 21:43,841,328 | C/A | regulatory region variant | — |
| rs876498 | 21:43,841,827 | G/A | upstream gene variant | — |
| rs758894971 | 21:43,846,835 | T/C | — | uncertain significance |
| rs139396929 | 21:43,846,876 | G/A | — | uncertain significance |
| rs12482904 | 21:43,851,828 | T/C | — | — |
| rs140960464 | 21:43,852,217 | C/T | — | benign |
| rs190830105 | 21:43,852,275 | G/A | — | uncertain significance |
| rs369174310 | 21:43,854,987 | G/A | — | uncertain significance |
| rs140316876 | 21:43,854,989 | C/T | — | uncertain significance |
| rs745724397 | 21:43,855,040 | G/A | — | uncertain significance |
| rs202199237 | 21:43,855,058 | A/T | — | uncertain significance |
| rs1893592 | 21:43,855,067 | A/C | splice region variant | benign |
| rs111164030 | 21:43,856,122 | T/C | intron variant | — |
| rs757424402 | 21:43,857,657 | C/T | — | uncertain significance |
| rs377676400 | 21:43,862,576 | A/G | — | uncertain significance |
| rs756249624 | 21:43,862,649 | C/T | — | uncertain significance |
| rs147337825 | 21:43,862,690 | A/C | — | uncertain significance |
| rs143166994 | 21:43,863,427 | C/T | — | uncertain significance |
| rs139291581 | 21:43,863,436 | T/G | — | uncertain significance |
| rs1204668293 | 21:43,863,479 | C/A | — | uncertain significance |
| rs1198811753 | 21:43,864,646 | G/A | — | uncertain significance |
| rs776020148 | 21:43,864,692 | C/A | — | uncertain significance |
| rs61735847 | 21:43,864,708 | G/A | — | benign |
| rs201392162 | 21:43,864,713 | C/T | — | uncertain significance |
| rs996746100 | 21:43,867,180 | G/A | — | uncertain significance |
| rs757479277 | 21:43,867,208 | G/T | — | uncertain significance |
| rs771765214 | 21:43,867,228 | T/C | — | uncertain significance |
| rs776235850 | 21:43,867,257 | G/A | — | uncertain significance |
| rs148149121 | 21:43,867,290 | A/G | — | benign |
| rs780410467 | 21:43,867,292 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.