LTBP3

latent transforming growth factor beta binding protein 3

Summary

The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

Known Variants1,138 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1154520111:65,306,356G/A—benign
rs155497174211:65,306,551T/A—pathogenic
rs185591603711:65,306,555C/T—uncertain significance
rs118646125711:65,306,556G/A—uncertain significance
rs136404171111:65,306,557G/A—likely benign
rs77528237011:65,306,558C/A—uncertain significance
rs249610702811:65,306,560G/C—likely benign
rs123997247811:65,306,561C/T—uncertain significance
rs104799130811:65,306,563C/G—uncertain significance
rs185591802311:65,306,566G/A—likely benign
rs136022260511:65,306,567G/A—uncertain significance
rs139550852811:65,306,576G/A—uncertain significance
rs76813040111:65,306,577C/T—uncertain significance
rs130682733911:65,306,580C/G—uncertain significance
rs77403066111:65,306,581G/A—likely benign
rs135270030511:65,306,583G/T—uncertain significance
rs185592113911:65,306,585G/A—uncertain significance
rs128235085611:65,306,588C/T—uncertain significance
rs76141356911:65,306,593G/A—likely benign
rs76788960111:65,306,597G/A—uncertain significance
rs117637985711:65,306,598C/T—uncertain significance
rs185592374311:65,306,601A/G—uncertain significance
rs249610854211:65,306,602G/A—likely benign
rs55597147211:65,306,605G/A—likely benign
rs117613528111:65,306,606G/A—uncertain significance
rs185592474811:65,306,614G/A—likely benign
rs146594875611:65,306,617G/A—likely benign
rs139865643511:65,306,621C/A—uncertain significance
rs76697655411:65,306,622G/C—uncertain significance
rs123477859411:65,306,627G/A—uncertain significance
rs130308409411:65,306,629G/A—likely benign
rs249610916811:65,306,631C/T—uncertain significance
rs249610940211:65,306,638G/A—likely benign
rs249610943511:65,306,639T/C—uncertain significance
rs145870840011:65,306,643C/T—uncertain significance
rs37703221711:65,306,647G/A—likely benign
rs105325111:65,306,650C/T—likely benign
rs119593229911:65,306,653G/A—likely benign
rs185593021811:65,306,662C/G—likely benign
rs249611006211:65,306,664G/A—likely benign
rs77910785111:65,306,667G/A—likely benign
rs128266101911:65,306,670C/G—uncertain significance
rs57591381311:65,306,671G/A—likely benign
rs101074938411:65,306,675T/G—uncertain significance
rs141476371911:65,306,677G/C—uncertain significance
rs249611054411:65,306,681A/G—uncertain significance
rs102089478111:65,306,687C/T—uncertain significance
rs75864890411:65,306,688G/T—likely benign
rs133508511211:65,306,689G/A—likely benign
rs122323835111:65,306,692C/G—uncertain significance
rs249611063711:65,306,694C/A—uncertain significance
rs78086649311:65,306,695G/A—likely benign
rs128172469611:65,306,698G/A—likely benign
rs249611067211:65,306,699A/G—uncertain significance
rs249611073111:65,306,704T/C—uncertain significance
rs119304710211:65,306,711G/A—likely benign
rs92770190711:65,306,714G/A—likely benign
rs141858816511:65,306,715G/A—likely benign
rs95907324411:65,306,716C/T—likely benign
rs37604974111:65,306,717G/C—likely benign
rs78008600211:65,306,721G/A—likely benign
rs144955657211:65,306,780C/T—likely benign
rs77168905311:65,306,783C/T—likely benign
rs94486107511:65,306,785G/A—likely benign
rs104058594611:65,306,787A/G—likely benign
rs76663236111:65,306,789C/T—likely benign
rs185594796211:65,306,790C/G—likely benign
rs77723724711:65,306,791C/T—likely benign
rs144458955811:65,306,792G/C—likely benign
rs148109225511:65,306,802C/T—uncertain significance
rs185594966711:65,306,803G/A—likely benign
rs249611225811:65,306,810G/A—uncertain significance
rs138201569911:65,306,811C/G—uncertain significance
rs143755948011:65,306,812G/A—likely benign
rs76543319211:65,306,818G/A—likely benign
rs141603392211:65,306,820C/T—uncertain significance
rs135805774411:65,306,823C/T—uncertain significance
rs135745693111:65,306,824G/A—likely benign
rs144256785911:65,306,836G/A—likely benign
rs249611248211:65,306,837C/G—uncertain significance
rs137520580011:65,306,839G/A—likely benign
rs249611255811:65,306,843C/T—likely pathogenic
rs36863334611:65,306,851C/G—likely benign
rs89312177011:65,306,854G/A—likely benign
rs143846249811:65,306,857G/A—likely benign
rs37236791411:65,306,859C/T—uncertain significance
rs102128512711:65,306,863C/T—likely benign
rs185595462411:65,306,864G/A—uncertain significance
rs90246899711:65,306,865G/A—uncertain significance
rs124700927811:65,306,867C/A—uncertain significance
rs147900095911:65,306,868G/A—uncertain significance
rs75170602311:65,306,870G/C—uncertain significance
rs100387396511:65,306,872C/T—likely benign
rs75597455611:65,306,874C/T—uncertain significance
rs95920821511:65,306,875G/A—likely benign
rs185595630811:65,306,879C/T—uncertain significance
rs144549988211:65,306,883C/T—uncertain significance
rs14101799611:65,306,885C/T—uncertain significance
rs133318130711:65,306,889C/A—uncertain significance
rs37517361411:65,306,894C/A—uncertain significance

Showing 100 of 1,138 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.