TGFBI
transforming growth factor beta induced
Summary
This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion. Mutations in this gene are associated with multiple types of corneal dystrophy. [provided by RefSeq, Jul 2008]
Known Variants143 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs562269545 | 5:135,364,621 | C/A | — | uncertain significance |
| rs886059921 | 5:135,364,639 | C/T | — | uncertain significance |
| rs961237698 | 5:135,364,749 | C/G | — | uncertain significance |
| rs770699457 | 5:135,364,794 | G/C | — | uncertain significance |
| rs1052170143 | 5:135,364,811 | G/T | — | uncertain significance |
| rs767993906 | 5:135,364,821 | C/T | — | uncertain significance |
| rs2479563353 | 5:135,364,858 | G/C | — | uncertain significance |
| rs529657143 | 5:135,364,892 | C/A | — | conflicting classifications of pathogenicity |
| rs62364447 | 5:135,366,485 | C/T | intron variant | — |
| rs368854767 | 5:135,369,458 | C/T | — | uncertain significance |
| rs767980992 | 5:135,369,507 | A/C | — | uncertain significance |
| rs376708827 | 5:135,369,541 | G/A | — | uncertain significance |
| rs375152141 | 5:135,369,553 | G/A | — | likely benign |
| rs139267193 | 5:135,376,953 | G/A | regulatory region variant | — |
| rs7719624 | 5:135,377,566 | C/T | intron variant | — |
| rs759976271 | 5:135,379,786 | C/T | — | uncertain significance |
| rs886059922 | 5:135,379,796 | A/G | — | uncertain significance |
| rs7723865 | 5:135,381,910 | T/A | intron variant | — |
| rs761942644 | 5:135,382,046 | C/T | — | uncertain significance |
| rs766343295 | 5:135,382,059 | G/A | — | uncertain significance |
| rs757933370 | 5:135,382,062 | G/A | — | uncertain significance |
| rs886059923 | 5:135,382,073 | C/A | — | uncertain significance |
| rs541270955 | 5:135,382,092 | G/C | — | benign |
| rs121909210 | 5:135,382,095 | C/A | missense variant | pathogenic |
| rs121909211 | 5:135,382,096 | G/T | missense variant | pathogenic |
| rs765026368 | 5:135,382,112 | G/C | — | uncertain significance |
| rs199604416 | 5:135,382,118 | G/T | — | uncertain significance |
| rs779817855 | 5:135,382,148 | C/T | — | likely benign |
| rs76212104 | 5:135,382,171 | C/T | — | uncertain significance |
| rs200273594 | 5:135,382,198 | C/T | — | uncertain significance |
| rs3749785 | 5:135,382,523 | C/T | — | benign |
| rs41298960 | 5:135,382,524 | T/C | — | benign |
| rs886059924 | 5:135,382,615 | C/T | — | uncertain significance |
| rs753369803 | 5:135,382,642 | G/A | — | uncertain significance |
| rs1442 | 5:135,382,989 | G/C | synonymous variant | benign |
| rs886059925 | 5:135,383,013 | C/A | — | uncertain significance |
| rs369362360 | 5:135,383,016 | C/T | — | conflicting classifications of pathogenicity |
| rs183236719 | 5:135,383,028 | C/T | — | likely benign |
| rs755263822 | 5:135,383,029 | C/T | — | uncertain significance |
| rs886059926 | 5:135,383,059 | A/G | — | uncertain significance |
| rs370262564 | 5:135,383,077 | A/C | — | uncertain significance |
| rs200535601 | 5:135,385,157 | G/A | — | likely benign |
| rs199852470 | 5:135,385,161 | C/T | — | likely benign |
| rs34334509 | 5:135,385,172 | T/C | — | benign |
| rs189359867 | 5:135,385,208 | C/A | — | conflicting classifications of pathogenicity |
| rs753546277 | 5:135,385,237 | A/G | — | uncertain significance |
| rs202239395 | 5:135,385,251 | G/A | — | conflicting classifications of pathogenicity |
| rs199686929 | 5:135,388,634 | G/A | — | uncertain significance |
| rs188428210 | 5:135,388,646 | G/A | — | uncertain significance |
| rs201210696 | 5:135,388,650 | C/T | — | conflicting classifications of pathogenicity |
| rs533421485 | 5:135,388,651 | G/A | — | uncertain significance |
| rs1054124 | 5:135,388,663 | A/G | — | benign |
| rs201709971 | 5:135,388,682 | A/G | — | uncertain significance |
| rs756998485 | 5:135,388,707 | A/G | — | uncertain significance |
| rs35920018 | 5:135,388,709 | A/G | — | benign |
| rs769820632 | 5:135,388,731 | C/T | — | uncertain significance |
| rs201158209 | 5:135,388,743 | A/G | — | uncertain significance |
| rs768431533 | 5:135,388,760 | A/T | — | uncertain significance |
| rs199645034 | 5:135,388,765 | C/T | — | conflicting classifications of pathogenicity |
| rs1322799994 | 5:135,388,782 | T/C | — | uncertain significance |
| rs13159365 | 5:135,389,433 | C/G | — | — |
| rs376923930 | 5:135,389,621 | C/T | — | uncertain significance |
| rs369100201 | 5:135,389,672 | C/T | — | conflicting classifications of pathogenicity |
| rs986231295 | 5:135,389,698 | C/A | — | uncertain significance |
| rs555953015 | 5:135,389,699 | C/T | — | uncertain significance |
| rs2479611254 | 5:135,389,704 | T/A | — | uncertain significance |
| rs538237584 | 5:135,389,705 | C/T | — | likely benign |
| rs144900214 | 5:135,390,366 | G/A | intron variant | — |
| rs145873615 | 5:135,390,394 | C/A | — | uncertain significance |
| rs886059927 | 5:135,390,424 | T/A | — | uncertain significance |
| rs554088498 | 5:135,390,431 | A/G | — | uncertain significance |
| rs200298786 | 5:135,390,446 | C/T | — | uncertain significance |
| rs148555720 | 5:135,390,452 | C/T | — | benign |
| rs190191005 | 5:135,390,517 | C/T | — | likely benign |
| rs778554252 | 5:135,390,518 | G/A | — | uncertain significance |
| rs199862235 | 5:135,390,525 | A/C | — | uncertain significance |
| rs759370852 | 5:135,390,545 | C/T | — | uncertain significance |
| rs376761086 | 5:135,390,546 | G/A | — | likely pathogenic |
| rs11242308 | 5:135,391,366 | C/T | — | benign |
| rs1133170 | 5:135,391,374 | C/T | — | benign |
| rs1751616695 | 5:135,391,386 | C/G | — | uncertain significance |
| rs192398905 | 5:135,391,397 | C/T | — | conflicting classifications of pathogenicity |
| rs766764647 | 5:135,391,404 | C/T | — | likely benign |
| rs539008520 | 5:135,391,412 | G/A | — | uncertain significance |
| rs372556093 | 5:135,391,422 | C/T | — | likely benign |
| rs10057190 | 5:135,391,444 | C/T | — | uncertain significance |
| rs121909212 | 5:135,391,459 | C/T | missense variant | uncertain significance |
| rs188677757 | 5:135,391,462 | A/G | — | conflicting classifications of pathogenicity |
| rs201775031 | 5:135,391,471 | G/A | — | conflicting classifications of pathogenicity |
| rs121909216 | 5:135,391,484 | T/G | missense variant | pathogenic |
| rs200065806 | 5:135,391,498 | C/T | — | conflicting classifications of pathogenicity |
| rs530953796 | 5:135,392,389 | C/T | — | uncertain significance |
| rs552261238 | 5:135,392,390 | G/A | — | likely benign |
| rs1751639731 | 5:135,392,417 | C/T | — | uncertain significance |
| rs2126915354 | 5:135,392,418 | A/C | — | likely pathogenic |
| rs121909214 | 5:135,392,425 | T/C | missense variant | pathogenic |
| rs4669 | 5:135,392,426 | T/C | — | benign |
| rs777288957 | 5:135,392,437 | A/G | — | uncertain significance |
| rs267607109 | 5:135,392,443 | C/A | missense variant | pathogenic |
| rs2479618543 | 5:135,392,446 | T/G | — | likely pathogenic |
Showing 100 of 143 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.