XAB2
XPA binding protein 2
Summary
Involved in DNA-templated transcription; mRNA splicing, via spliceosome; and transcription-coupled nucleotide-excision repair. Located in nucleoplasm. Part of U2-type catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants55 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs745659658 | 19:7,684,488 | C/T | — | uncertain significance |
| rs2512645725 | 19:7,684,494 | A/G | — | uncertain significance |
| rs2030981854 | 19:7,684,507 | G/A | — | uncertain significance |
| rs774729857 | 19:7,684,510 | C/T | — | uncertain significance |
| rs1327493247 | 19:7,684,651 | T/C | — | uncertain significance |
| rs887945394 | 19:7,684,669 | C/A | — | uncertain significance |
| rs747283014 | 19:7,684,713 | T/C | — | uncertain significance |
| rs1163947449 | 19:7,684,728 | C/T | — | uncertain significance |
| rs760547666 | 19:7,684,836 | C/T | — | uncertain significance |
| rs1272028252 | 19:7,684,874 | C/T | — | uncertain significance |
| rs775210977 | 19:7,684,875 | G/A | — | uncertain significance |
| rs761683993 | 19:7,684,926 | C/T | — | uncertain significance |
| rs2030995839 | 19:7,684,962 | C/A | — | uncertain significance |
| rs369409872 | 19:7,685,169 | G/A | — | uncertain significance |
| rs753963390 | 19:7,685,298 | A/G | — | uncertain significance |
| rs1256477507 | 19:7,685,311 | T/G | — | uncertain significance |
| rs1214476514 | 19:7,685,322 | G/A | — | uncertain significance |
| rs1383702749 | 19:7,685,462 | T/C | — | uncertain significance |
| rs763507107 | 19:7,685,464 | T/C | — | uncertain significance |
| rs994199794 | 19:7,685,474 | G/A | — | uncertain significance |
| rs1168841877 | 19:7,685,542 | T/A | — | uncertain significance |
| rs1458397409 | 19:7,685,827 | C/T | — | uncertain significance |
| rs373454646 | 19:7,686,089 | C/T | — | uncertain significance |
| rs141253734 | 19:7,686,090 | G/A | — | uncertain significance |
| rs1308892088 | 19:7,686,098 | T/G | — | uncertain significance |
| rs1305212431 | 19:7,687,258 | T/C | — | uncertain significance |
| rs377233228 | 19:7,687,273 | C/T | — | uncertain significance |
| rs1315567841 | 19:7,687,285 | T/C | — | uncertain significance |
| rs377194001 | 19:7,687,309 | G/A | — | uncertain significance |
| rs578001435 | 19:7,687,430 | G/T | — | uncertain significance |
| rs771900837 | 19:7,687,507 | T/A | — | uncertain significance |
| rs753191949 | 19:7,687,526 | G/A | — | uncertain significance |
| rs367588563 | 19:7,687,537 | G/A | — | uncertain significance |
| rs756828466 | 19:7,687,540 | G/A | — | uncertain significance |
| rs757943883 | 19:7,687,716 | C/A | — | uncertain significance |
| rs370229927 | 19:7,688,667 | C/T | — | uncertain significance |
| rs772903262 | 19:7,688,697 | T/C | — | uncertain significance |
| rs1049870147 | 19:7,688,706 | G/A | — | uncertain significance |
| rs763248298 | 19:7,689,210 | G/C | — | uncertain significance |
| rs188226286 | 19:7,689,316 | C/T | — | uncertain significance |
| rs752621645 | 19:7,690,801 | C/G | — | uncertain significance |
| rs779099614 | 19:7,690,810 | A/C | — | uncertain significance |
| rs754117673 | 19:7,691,105 | G/A | — | uncertain significance |
| rs4134827 | 19:7,692,060 | G/A | downstream gene variant | — |
| rs1206316376 | 19:7,692,174 | G/C | — | uncertain significance |
| rs377180827 | 19:7,692,179 | A/G | — | uncertain significance |
| rs770027710 | 19:7,692,196 | T/C | — | uncertain significance |
| rs201040075 | 19:7,692,211 | C/T | — | uncertain significance |
| rs779897427 | 19:7,692,245 | C/T | — | uncertain significance |
| rs756929913 | 19:7,692,269 | G/A | — | uncertain significance |
| rs755397413 | 19:7,692,670 | G/A | — | uncertain significance |
| rs1389957647 | 19:7,693,106 | A/G | — | uncertain significance |
| rs749931572 | 19:7,693,124 | A/C | — | uncertain significance |
| rs587777839 | 19:7,694,722 | G/C | missense variant | pathogenic |
| rs587779779 | 19:7,696,362 | C/T | stop gained | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.