UBAP1
ubiquitin associated protein 1
Summary
This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact three helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss of heterozygosity in nasopharyngeal carcinoma (NPC). Taking into account its cytogenetic location, this UBA domain family member is being studies as a putative target for mutation in nasopharyngeal carcinomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9650705 | 9:34,178,974 | G/A | — | benign |
| rs200117818 | 9:34,179,037 | A/T | — | uncertain significance |
| rs188390433 | 9:34,179,065 | G/T | — | uncertain significance |
| rs993140598 | 9:34,179,072 | C/T | — | likely benign |
| rs756968108 | 9:34,179,079 | G/T | — | uncertain significance |
| rs988815377 | 9:34,179,185 | C/T | — | uncertain significance |
| rs1196295221 | 9:34,179,200 | C/T | — | uncertain significance |
| rs115540638 | 9:34,191,992 | A/T | downstream gene variant | — |
| rs41313794 | 9:34,220,855 | G/A | — | benign |
| rs1205697301 | 9:34,234,283 | G/T | — | uncertain significance |
| rs905132769 | 9:34,234,312 | T/G | — | uncertain significance |
| rs10972012 | 9:34,235,329 | G/A | intron variant | — |
| rs1026949876 | 9:34,241,225 | G/C | — | uncertain significance |
| rs370655695 | 9:34,241,249 | G/A | — | conflicting classifications of pathogenicity |
| rs1432032787 | 9:34,241,292 | T/C | — | uncertain significance |
| rs140809861 | 9:34,241,310 | C/T | — | uncertain significance |
| rs758296334 | 9:34,241,327 | A/T | — | uncertain significance |
| rs1587878961 | 9:34,241,339 | A/T | — | pathogenic |
| rs2491079188 | 9:34,241,349 | G/A | — | uncertain significance |
| rs542392560 | 9:34,241,391 | G/A | — | uncertain significance |
| rs1563920172 | 9:34,241,396 | C/T | — | pathogenic |
| rs764064548 | 9:34,241,426 | G/A | — | uncertain significance |
| rs768272492 | 9:34,241,471 | A/T | — | uncertain significance |
| rs562285027 | 9:34,241,528 | C/A | — | conflicting classifications of pathogenicity |
| rs1587879449 | 9:34,241,549 | G/T | — | pathogenic |
| rs1833955862 | 9:34,241,558 | G/T | — | pathogenic |
| rs201070690 | 9:34,241,730 | C/A | — | uncertain significance |
| rs991996408 | 9:34,241,792 | A/G | — | uncertain significance |
| rs1432496591 | 9:34,241,927 | C/G | — | uncertain significance |
| rs2491085215 | 9:34,242,074 | G/C | — | uncertain significance |
| rs16935457 | 9:34,242,094 | T/A | — | benign |
| rs10972015 | 9:34,242,192 | C/T | — | benign |
| rs7857658 | 9:34,242,242 | G/A | — | benign |
| rs2380926 | 9:34,249,354 | T/G | — | — |
| rs2491125153 | 9:34,249,781 | C/A | — | uncertain significance |
| rs2491125287 | 9:34,249,804 | C/G | — | uncertain significance |
| rs1182174486 | 9:34,249,862 | C/T | — | uncertain significance |
| rs138812386 | 9:34,249,882 | G/A | — | benign |
| rs778956133 | 9:34,249,913 | A/T | — | uncertain significance |
| rs146620671 | 9:34,249,945 | G/A | — | conflicting classifications of pathogenicity |
| rs1227081826 | 9:34,249,958 | A/G | — | likely pathogenic |
| rs117985789 | 9:34,249,965 | C/T | — | benign |
| rs751477831 | 9:34,250,696 | A/G | — | uncertain significance |
| rs1834449762 | 9:34,250,722 | G/A | — | uncertain significance |
| rs556099212 | 9:34,251,474 | A/G | — | likely benign |
| rs371234489 | 9:34,251,506 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.