TGFBR2
transforming growth factor beta receptor 2
Summary
The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Aug 2017]
Known Variants940 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs764522 | 3:30,646,550 | G/A | — | — |
| rs3087465 | 3:30,647,160 | A/G | upstream gene variant | benign |
| rs6808594 | 3:30,647,717 | T/G | — | likely benign |
| rs1697919506 | 3:30,647,988 | C/T | — | conflicting classifications of pathogenicity |
| rs886058297 | 3:30,648,005 | A/C | — | conflicting classifications of pathogenicity |
| rs886058298 | 3:30,648,032 | C/A | — | uncertain significance |
| rs1038796042 | 3:30,648,039 | T/A | — | uncertain significance |
| rs749340193 | 3:30,648,069 | C/T | — | conflicting classifications of pathogenicity |
| rs138010137 | 3:30,648,074 | A/G | — | likely benign |
| rs886058299 | 3:30,648,127 | T/G | — | uncertain significance |
| rs886058300 | 3:30,648,148 | C/A | — | uncertain significance |
| rs925186023 | 3:30,648,181 | G/A | — | uncertain significance |
| rs886058301 | 3:30,648,183 | G/A | — | uncertain significance |
| rs2306856 | 3:30,648,248 | C/G | — | likely benign |
| rs1040386724 | 3:30,648,254 | T/G | — | conflicting classifications of pathogenicity |
| rs886058302 | 3:30,648,259 | G/A | — | conflicting classifications of pathogenicity |
| rs903936503 | 3:30,648,310 | A/G | — | likely benign |
| rs1002352692 | 3:30,648,317 | C/G | — | conflicting classifications of pathogenicity |
| rs767154664 | 3:30,648,345 | G/A | — | likely benign |
| rs1469986980 | 3:30,648,349 | G/C | — | uncertain significance |
| rs752752584 | 3:30,648,350 | G/A | — | uncertain significance |
| rs753369354 | 3:30,648,358 | C/A | — | conflicting classifications of pathogenicity |
| rs2470443284 | 3:30,648,361 | G/C | — | uncertain significance |
| rs1697931973 | 3:30,648,363 | A/C | — | conflicting classifications of pathogenicity |
| rs1406962229 | 3:30,648,367 | G/T | — | uncertain significance |
| rs727504344 | 3:30,648,368 | G/A | — | uncertain significance |
| rs2125438616 | 3:30,648,371 | C/T | — | uncertain significance |
| rs2470443392 | 3:30,648,375 | C/T | — | uncertain significance |
| rs933114782 | 3:30,648,376 | A/G | — | uncertain significance |
| rs565502802 | 3:30,648,379 | G/T | — | conflicting classifications of pathogenicity |
| rs758864131 | 3:30,648,381 | T/C | — | likely benign |
| rs2470443423 | 3:30,648,382 | C/T | — | uncertain significance |
| rs780267559 | 3:30,648,383 | G/A | — | uncertain significance |
| rs1559443648 | 3:30,648,384 | G/A | — | conflicting classifications of pathogenicity |
| rs1697932548 | 3:30,648,387 | G/A | — | likely benign |
| rs1697932603 | 3:30,648,390 | G/T | — | likely benign |
| rs2470443466 | 3:30,648,391 | C/T | — | uncertain significance |
| rs2470443468 | 3:30,648,392 | T/C | — | uncertain significance |
| rs1697932736 | 3:30,648,395 | G/A | — | uncertain significance |
| rs1201208132 | 3:30,648,406 | C/T | — | uncertain significance |
| rs1575125895 | 3:30,648,408 | G/T | — | likely benign |
| rs2125438712 | 3:30,648,412 | C/A | — | uncertain significance |
| rs1697933283 | 3:30,648,417 | C/G | — | uncertain significance |
| rs1182907194 | 3:30,648,418 | G/T | — | uncertain significance |
| rs1234963515 | 3:30,648,428 | C/T | — | uncertain significance |
| rs139456857 | 3:30,648,429 | G/C | — | conflicting classifications of pathogenicity |
| rs763085648 | 3:30,648,431 | G/A | — | uncertain significance |
| rs1697933766 | 3:30,648,433 | A/G | — | uncertain significance |
| rs1697933901 | 3:30,648,436 | G/T | — | uncertain significance |
| rs767407566 | 3:30,648,439 | A/T | — | uncertain significance |
| rs2125438793 | 3:30,648,443 | C/G | — | uncertain significance |
| rs878854612 | 3:30,648,444 | G/T | — | conflicting classifications of pathogenicity |
| rs1697934054 | 3:30,648,445 | A/T | — | uncertain significance |
| rs572435149 | 3:30,648,450 | A/G | — | likely benign |
| rs764160271 | 3:30,648,451 | C/T | — | uncertain significance |
| rs2125438811 | 3:30,648,452 | C/T | — | uncertain significance |
| rs753781287 | 3:30,648,453 | G/A | — | likely benign |
| rs1057520957 | 3:30,648,456 | C/T | — | conflicting classifications of pathogenicity |
| rs1224678519 | 3:30,648,462 | G/T | — | uncertain significance |
| rs761400349 | 3:30,648,466 | T/G | — | conflicting classifications of pathogenicity |
| rs2125438854 | 3:30,648,469 | G/T | — | uncertain significance |
| rs1269699495 | 3:30,648,475 | T/G | — | conflicting classifications of pathogenicity |
| rs1575125943 | 3:30,648,476 | G/C | — | conflicting classifications of pathogenicity |
| rs2470443975 | 3:30,648,481 | C/T | — | likely benign |
| rs1489975604 | 3:30,648,487 | C/T | — | likely benign |
| rs2470444009 | 3:30,648,489 | G/T | — | likely benign |
| rs561070366 | 3:30,648,509 | G/T | — | likely benign |
| rs6550005 | 3:30,650,064 | A/T | — | — |
| rs6791557 | 3:30,656,168 | G/A | — | benign |
| rs11129420 | 3:30,658,541 | T/A | intron variant | — |
| rs6802220 | 3:30,659,652 | G/A | intron variant | — |
| rs1036095 | 3:30,662,328 | C/G | intron variant | — |
| rs375610471 | 3:30,664,671 | A/G | — | likely benign |
| rs1409106424 | 3:30,664,705 | G/A | — | likely benign |
| rs149757320 | 3:30,664,707 | C/T | — | likely benign |
| rs61732532 | 3:30,664,714 | G/A | — | conflicting classifications of pathogenicity |
| rs143701368 | 3:30,664,725 | C/T | — | likely benign |
| rs113474008 | 3:30,664,729 | C/G | — | uncertain significance |
| rs200111443 | 3:30,664,732 | A/C | — | conflicting classifications of pathogenicity |
| rs781529108 | 3:30,664,742 | G/A | — | conflicting classifications of pathogenicity |
| rs557449314 | 3:30,664,747 | G/C | — | conflicting classifications of pathogenicity |
| rs139308302 | 3:30,664,751 | A/G | — | uncertain significance |
| rs138262219 | 3:30,664,762 | C/A | — | conflicting classifications of pathogenicity |
| rs184395862 | 3:30,664,768 | A/C | — | benign |
| rs770994456 | 3:30,664,777 | T/C | — | likely benign |
| rs4522809 | 3:30,668,684 | A/G | regulatory region variant | — |
| rs17025857 | 3:30,681,095 | A/G | intron variant | — |
| rs1312697004 | 3:30,682,560 | C/A | — | uncertain significance |
| rs12493607 | 3:30,682,939 | G/C | intron variant | benign |
| rs13093591 | 3:30,682,947 | T/C | — | benign |
| rs67771022 | 3:30,682,977 | G/A | — | benign |
| rs34771216 | 3:30,683,034 | C/G | — | benign |
| rs72849374 | 3:30,683,182 | C/G | — | benign |
| rs56277861 | 3:30,683,201 | A/G | — | benign |
| rs13075948 | 3:30,683,506 | C/T | intron variant | — |
| rs9867701 | 3:30,684,683 | G/A | — | benign |
| rs17838698 | 3:30,684,907 | T/C | — | benign |
| rs371326218 | 3:30,686,219 | A/G | — | likely benign |
| rs1698698772 | 3:30,686,221 | A/T | — | likely benign |
| rs1473341075 | 3:30,686,227 | C/G | — | likely benign |
Showing 100 of 940 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.