RBP4

retinol binding protein 4

Summary

This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. [provided by RefSeq, Jul 2008]

Known Variants155 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3457143910:95,351,310A/G——
rs120435956810:95,351,850T/C—likely benign
rs77762017710:95,351,861C/T—uncertain significance
rs75377689310:95,351,862G/A—likely benign
rs205827068910:95,351,870C/T—likely pathogenic
rs7699982410:95,351,950A/G—benign
rs1748472110:95,353,312A/Gdownstream gene variant—
rs1088227510:95,353,488T/C—benign
rs7658205010:95,353,513G/A—benign
rs75367127010:95,353,570C/T—likely benign
rs87918893610:95,353,573G/T—likely benign
rs75707748810:95,353,575C/A—uncertain significance
rs100983228210:95,353,580C/T—uncertain significance
rs37305880610:95,353,581G/A—uncertain significance
rs75035661710:95,353,582T/C—uncertain significance
rs75805057610:95,353,585T/C—uncertain significance
rs77960402410:95,353,589C/T—conflicting classifications of pathogenicity
rs37498743110:95,353,590G/A—likely benign
rs11688705210:95,353,604G/T—uncertain significance
rs205828339610:95,353,605C/T—likely benign
rs20208723810:95,353,619G/A—likely benign
rs15054000810:95,353,620C/A—uncertain significance
rs205828370310:95,353,622C/A—pathogenic
rs213456758410:95,353,625C/T—uncertain significance
rs76060428810:95,353,630C/T—uncertain significance
rs13953445310:95,353,631G/A—uncertain significance
rs77694240610:95,353,638T/G—likely benign
rs75044443210:95,353,641A/G—likely benign
rs76616716710:95,353,643T/C—uncertain significance
rs36937848010:95,353,650C/T—likely benign
rs78095038210:95,353,651G/A—uncertain significance
rs18919608210:95,353,661G/A—uncertain significance
rs37201038810:95,353,667C/A—uncertain significance
rs37633706610:95,353,668G/A—likely benign
rs76549939910:95,353,676C/A—uncertain significance
rs77314611710:95,353,677C/T—likely benign
rs249405869510:95,353,678C/T—uncertain significance
rs76636535010:95,353,681G/A—uncertain significance
rs75143355910:95,353,683A/G—likely benign
rs36956007010:95,353,689G/A—likely benign
rs158968401110:95,353,707A/C—uncertain significance
rs249405895310:95,353,724T/C—uncertain significance
rs91543284010:95,353,740G/A—likely benign
rs129644692010:95,353,743C/T—likely benign
rs14428127710:95,353,746C/T—likely benign
rs55760972810:95,353,748C/T—uncertain significance
rs77017531710:95,353,749G/A—likely benign
rs132928521610:95,353,754A/T—conflicting classifications of pathogenicity
rs77352269510:95,353,755C/T—likely benign
rs57754073210:95,353,756G/T—uncertain significance
rs36894330710:95,353,760C/T—uncertain significance
rs37307020110:95,353,761G/A—likely benign
rs249405927010:95,353,765T/C—likely pathogenic
rs3481240010:95,353,767T/C—benign
rs75220419810:95,353,772C/T—uncertain significance
rs76013840610:95,353,773G/A—likely benign
rs37057937910:95,353,775C/T—uncertain significance
rs76375830710:95,353,776G/A—likely benign
rs133096470810:95,353,779C/A—uncertain significance
rs249405934210:95,353,790C/A—likely pathogenic
rs1226568410:95,353,817C/Gdownstream gene variantbenign
rs1118754510:95,357,105A/Gregulatory region variant—
rs1088228010:95,359,313C/Aintron variant—
rs1118754810:95,359,938C/T—benign
rs1088228210:95,359,968G/C—benign
rs3601403510:95,360,027A/C—benign
rs7332728110:95,360,059C/T—benign
rs5747760710:95,360,109C/G—benign
rs90025782210:95,360,131C/A—likely benign
rs140775370910:95,360,140G/C—likely benign
rs76487846810:95,360,141A/T—likely benign
rs249406825910:95,360,142C/A—likely benign
rs11371238410:95,360,149C/T—likely pathogenic
rs155488744310:95,360,152C/T—likely pathogenic
rs75534947910:95,360,157C/A—uncertain significance
rs37139452910:95,360,166G/C—likely benign
rs249406830810:95,360,170G/A—uncertain significance
rs14530094810:95,360,172T/C—likely benign
rs205832898410:95,360,174C/T—uncertain significance
rs96691763710:95,360,182T/C—uncertain significance
rs14504475110:95,360,189T/A—uncertain significance
rs205832913410:95,360,202A/G—likely benign
rs14909196310:95,360,203G/T—uncertain significance
rs74932941610:95,360,204G/T—uncertain significance
rs20140728510:95,360,210C/T—uncertain significance
rs77915329210:95,360,211G/C—likely benign
rs205832927310:95,360,212G/T—uncertain significance
rs12191858510:95,360,227C/Tmissense variantpathogenic
rs20086732110:95,360,228C/T—uncertain significance
rs249406841910:95,360,234T/C—conflicting classifications of pathogenicity
rs37360606910:95,360,241G/A—likely benign
rs249406846110:95,360,247G/A—likely benign
rs134013723410:95,360,248T/A—uncertain significance
rs77183151810:95,360,270G/A—likely benign
rs6146173710:95,360,380A/Gregulatory region variantbenign
rs11673652210:95,360,396G/C—benign
rs76850746110:95,360,407C/T—likely benign
rs74766419210:95,360,410C/T—likely benign
rs5702978110:95,360,411G/A—benign
rs11178537310:95,360,423C/T—likely pathogenic

Showing 100 of 155 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.