LTBP2
latent transforming growth factor beta binding protein 2
Summary
The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq, Jul 2008]
Known Variants1,170 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs114088127 | 14:74,964,734 | G/A | — | likely benign |
| rs74384554 | 14:74,964,903 | T/C | — | conflicting classifications of pathogenicity |
| rs531824728 | 14:74,965,018 | C/T | — | uncertain significance |
| rs10141546 | 14:74,965,124 | C/A | — | likely benign |
| rs1595233261 | 14:74,965,168 | G/A | — | uncertain significance |
| rs190461277 | 14:74,965,224 | T/C | — | conflicting classifications of pathogenicity |
| rs552983028 | 14:74,965,234 | A/G | — | uncertain significance |
| rs886050747 | 14:74,965,321 | C/T | — | uncertain significance |
| rs753803515 | 14:74,965,351 | G/A | — | uncertain significance |
| rs113879332 | 14:74,965,434 | A/G | — | likely benign |
| rs949885665 | 14:74,965,475 | C/T | — | uncertain significance |
| rs73296214 | 14:74,965,543 | C/T | — | likely benign |
| rs886050748 | 14:74,965,561 | A/G | — | uncertain significance |
| rs73296215 | 14:74,965,630 | T/C | upstream gene variant | benign |
| rs77847288 | 14:74,965,714 | G/C | — | likely benign |
| rs1052939 | 14:74,965,769 | A/G | — | benign |
| rs1419112516 | 14:74,965,810 | T/C | — | uncertain significance |
| rs1378655630 | 14:74,965,811 | G/A | — | uncertain significance |
| rs781717691 | 14:74,965,844 | G/A | — | uncertain significance |
| rs183119073 | 14:74,965,956 | G/A | — | uncertain significance |
| rs527271189 | 14:74,966,106 | G/A | — | uncertain significance |
| rs187052141 | 14:74,966,160 | T/C | — | conflicting classifications of pathogenicity |
| rs2086887490 | 14:74,966,194 | A/G | — | uncertain significance |
| rs191692241 | 14:74,966,285 | C/T | — | uncertain significance |
| rs576929018 | 14:74,966,407 | G/A | — | uncertain significance |
| rs886050749 | 14:74,966,417 | T/C | — | uncertain significance |
| rs2086890935 | 14:74,966,558 | C/T | — | uncertain significance |
| rs541743695 | 14:74,966,582 | G/A | — | uncertain significance |
| rs374130664 | 14:74,966,642 | A/G | — | conflicting classifications of pathogenicity |
| rs1175589944 | 14:74,966,658 | T/C | — | uncertain significance |
| rs7569 | 14:74,966,763 | G/A | — | benign |
| rs541978964 | 14:74,966,844 | C/T | — | uncertain significance |
| rs913148674 | 14:74,966,845 | G/A | — | uncertain significance |
| rs41307092 | 14:74,966,882 | G/A | — | uncertain significance |
| rs886050750 | 14:74,966,949 | A/C | — | uncertain significance |
| rs1323555762 | 14:74,966,978 | T/G | — | uncertain significance |
| rs2086896748 | 14:74,967,190 | G/T | — | uncertain significance |
| rs2086896920 | 14:74,967,203 | C/G | — | uncertain significance |
| rs886050751 | 14:74,967,214 | T/C | — | uncertain significance |
| rs957387729 | 14:74,967,271 | G/C | — | uncertain significance |
| rs534807623 | 14:74,967,275 | A/G | — | uncertain significance |
| rs886050752 | 14:74,967,354 | T/C | — | uncertain significance |
| rs141989493 | 14:74,967,358 | G/A | — | uncertain significance |
| rs192723743 | 14:74,967,381 | G/A | — | uncertain significance |
| rs574028105 | 14:74,967,420 | C/T | — | uncertain significance |
| rs886050753 | 14:74,967,440 | T/A | — | uncertain significance |
| rs146119949 | 14:74,967,468 | G/A | — | conflicting classifications of pathogenicity |
| rs185374765 | 14:74,967,532 | C/T | — | uncertain significance |
| rs759816098 | 14:74,967,590 | C/G | — | uncertain significance |
| rs2506126829 | 14:74,967,612 | G/A | — | uncertain significance |
| rs201114882 | 14:74,967,629 | A/G | — | likely benign |
| rs1266568731 | 14:74,967,632 | T/G | — | likely benign |
| rs773246040 | 14:74,967,635 | C/T | — | likely benign |
| rs191944410 | 14:74,967,636 | G/A | — | uncertain significance |
| rs776552082 | 14:74,967,643 | A/G | — | uncertain significance |
| rs143010135 | 14:74,967,651 | C/T | — | conflicting classifications of pathogenicity |
| rs763035721 | 14:74,967,673 | C/T | — | uncertain significance |
| rs764186326 | 14:74,967,674 | G/A | — | likely benign |
| rs137854895 | 14:74,967,677 | — | — | pathogenic |
| rs529229239 | 14:74,967,687 | A/G | — | conflicting classifications of pathogenicity |
| rs368636646 | 14:74,967,688 | C/G | — | uncertain significance |
| rs2139684382 | 14:74,967,689 | A/G | — | likely benign |
| rs549156119 | 14:74,967,706 | C/T | — | uncertain significance |
| rs141540101 | 14:74,967,707 | G/A | — | likely benign |
| rs745653727 | 14:74,967,710 | C/G | — | uncertain significance |
| rs150530086 | 14:74,967,716 | A/T | — | conflicting classifications of pathogenicity |
| rs2086903841 | 14:74,967,746 | A/G | — | likely benign |
| rs138895442 | 14:74,967,748 | G/A | — | benign |
| rs77015988 | 14:74,968,000 | C/T | — | likely benign |
| rs751080389 | 14:74,968,134 | C/T | — | likely benign |
| rs2506127557 | 14:74,968,152 | G/A | — | uncertain significance |
| rs138556118 | 14:74,968,164 | G/A | — | uncertain significance |
| rs772174775 | 14:74,968,168 | C/A | — | uncertain significance |
| rs773705689 | 14:74,968,171 | G/A | — | likely benign |
| rs1416763184 | 14:74,968,174 | G/T | — | uncertain significance |
| rs886050754 | 14:74,968,194 | C/A | — | uncertain significance |
| rs886050755 | 14:74,968,195 | A/G | — | uncertain significance |
| rs201787635 | 14:74,968,199 | G/A | — | likely benign |
| rs756787943 | 14:74,968,210 | G/A | — | uncertain significance |
| rs201736724 | 14:74,968,214 | G/A | — | likely benign |
| rs951375544 | 14:74,968,224 | C/T | — | uncertain significance |
| rs749061798 | 14:74,968,225 | G/T | — | uncertain significance |
| rs528254230 | 14:74,968,229 | A/C | — | benign |
| rs748378774 | 14:74,968,240 | C/G | — | uncertain significance |
| rs200772274 | 14:74,968,241 | G/A | — | likely benign |
| rs1435761349 | 14:74,968,249 | T/C | — | uncertain significance |
| rs777241198 | 14:74,968,253 | G/A | — | likely benign |
| rs765723436 | 14:74,968,262 | C/T | — | likely benign |
| rs774080243 | 14:74,968,263 | G/A | — | uncertain significance |
| rs2506127732 | 14:74,968,269 | A/G | — | uncertain significance |
| rs749894277 | 14:74,968,276 | C/T | — | uncertain significance |
| rs149587738 | 14:74,968,277 | G/A | — | conflicting classifications of pathogenicity |
| rs759870336 | 14:74,968,282 | C/T | — | uncertain significance |
| rs372981316 | 14:74,968,283 | G/A | — | conflicting classifications of pathogenicity |
| rs377616549 | 14:74,968,285 | C/T | — | uncertain significance |
| rs758548129 | 14:74,968,291 | G/A | — | uncertain significance |
| rs1051538171 | 14:74,968,292 | C/T | — | likely benign |
| rs906921321 | 14:74,968,303 | G/A | — | likely benign |
| rs370987753 | 14:74,968,309 | C/A | — | likely benign |
| rs144298924 | 14:74,968,310 | G/A | — | likely benign |
Showing 100 of 1,170 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.