TGFBRAP1
transforming growth factor beta receptor associated protein 1
Summary
This gene encodes a protein that binds to transforming growth factor-beta (TGF-beta) receptors and plays a role in TGF-beta signaling. The encoded protein acts as a chaprone in signaling downstream of TGF-beta. It is involved in signal-dependent association with SMAD4. The protein is also a component of mammalian CORVET, a multisubunit tethering protein complex that is involved in fusion of early endosomes. [provided by RefSeq, Jun 2016]
Known Variants54 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs17687727 | 2:105,865,967 | G/A | coding sequence variant | — |
| rs11683645 | 2:105,869,236 | G/T | upstream gene variant | — |
| rs17636747 | 2:105,877,870 | C/T | regulatory region variant | — |
| rs201487682 | 2:105,883,848 | G/A | — | uncertain significance |
| rs185907682 | 2:105,883,878 | T/C | — | uncertain significance |
| rs1216172126 | 2:105,884,004 | C/G | — | uncertain significance |
| rs760670024 | 2:105,884,014 | C/T | — | uncertain significance |
| rs962127988 | 2:105,884,016 | T/C | — | uncertain significance |
| rs754445189 | 2:105,885,807 | G/C | — | uncertain significance |
| rs141688814 | 2:105,885,921 | C/T | — | benign |
| rs531474896 | 2:105,885,941 | C/T | — | uncertain significance |
| rs2466888086 | 2:105,886,048 | G/T | — | uncertain significance |
| rs144071743 | 2:105,886,149 | T/G | — | likely benign |
| rs558049412 | 2:105,889,360 | G/A | — | uncertain significance |
| rs772581867 | 2:105,889,368 | G/C | — | uncertain significance |
| rs150366059 | 2:105,889,374 | G/A | — | uncertain significance |
| rs61738979 | 2:105,889,394 | C/T | — | benign |
| rs548934150 | 2:105,889,410 | G/A | — | uncertain significance |
| rs749537306 | 2:105,890,010 | C/G | — | uncertain significance |
| rs1677233453 | 2:105,890,045 | G/A | — | uncertain significance |
| rs2466900927 | 2:105,890,057 | A/G | — | uncertain significance |
| rs2466900950 | 2:105,890,062 | T/C | — | uncertain significance |
| rs143005481 | 2:105,890,081 | C/T | — | uncertain significance |
| rs371361028 | 2:105,890,135 | C/T | — | uncertain significance |
| rs373261611 | 2:105,892,068 | G/A | — | likely benign |
| rs369902946 | 2:105,896,872 | G/A | — | uncertain significance |
| rs773353392 | 2:105,896,918 | C/T | — | uncertain significance |
| rs777471005 | 2:105,896,960 | T/C | — | uncertain significance |
| rs771291315 | 2:105,897,076 | T/C | — | uncertain significance |
| rs1020064 | 2:105,897,740 | T/G | intron variant | — |
| rs2466933367 | 2:105,900,803 | A/C | — | uncertain significance |
| rs868203442 | 2:105,900,819 | T/C | — | uncertain significance |
| rs781562689 | 2:105,900,851 | A/G | — | uncertain significance |
| rs35350916 | 2:105,906,410 | C/G | intron variant | — |
| rs1030877 | 2:105,910,513 | G/A | regulatory region variant | — |
| rs78999474 | 2:105,912,949 | G/C | — | benign |
| rs566848210 | 2:105,915,066 | G/A | — | uncertain significance |
| rs6724198 | 2:105,915,067 | C/A | — | uncertain significance |
| rs200329983 | 2:105,915,073 | C/T | — | uncertain significance |
| rs372399291 | 2:105,915,145 | C/A | — | uncertain significance |
| rs62154720 | 2:105,923,080 | C/T | intron variant | — |
| rs1030145275 | 2:105,924,095 | G/C | — | uncertain significance |
| rs796052186 | 2:105,924,117 | C/G | — | likely benign |
| rs61738975 | 2:105,924,264 | C/T | — | benign |
| rs766883003 | 2:105,924,278 | C/T | — | uncertain significance |
| rs61738976 | 2:105,924,297 | G/A | — | benign |
| rs1678562383 | 2:105,924,323 | T/C | — | uncertain significance |
| rs769980531 | 2:105,924,416 | G/A | — | uncertain significance |
| rs199795246 | 2:105,924,575 | T/G | — | uncertain significance |
| rs2467003206 | 2:105,924,583 | C/T | — | uncertain significance |
| rs1292591111 | 2:105,924,584 | C/A | — | uncertain significance |
| rs113450226 | 2:105,924,587 | C/T | — | likely benign |
| rs141086993 | 2:105,925,527 | C/T | intron variant | — |
| rs4851057 | 2:105,939,237 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.