RAB33B

RAB33B, member RAS oncogene family

Summary

This gene encodes a small GTP-binding protein of the Rab GTPase family, whose members function in vesicle transport during protein secretion and endocytosis. Rab GTPases are active, membrane-associated proteins that recruit effector proteins in the GTP-bound state and inactive cytosolic proteins when in a GDP-bound state. The protein encoded by this gene is ubiquitously expressed and has been implicated in Golgi to endoplasmic reticulum cycling of Golgi enzymes. In addition, this protein regulates Golgi homeostasis and coordinates intra-Golgi retrograde trafficking. Allelic variants in this gene have been associated with Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia 2, which are autosomal recessive spondyloepimetaphyseal dysplasias characterized by skeletal abnormalities. [provided by RefSeq, Sep 2016]

Known Variants130 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5647020654:140,365,273A/T——
rs8860590714:140,374,982C/T—uncertain significance
rs5354986984:140,374,987G/A—uncertain significance
rs8860590724:140,375,002G/C—uncertain significance
rs8860590734:140,375,008T/C—uncertain significance
rs8860590744:140,375,095C/T—uncertain significance
rs131266174:140,375,145G/C—benign
rs8860590754:140,375,157G/T—uncertain significance
rs1907908124:140,375,183A/C—uncertain significance
rs765931614:140,375,186G/A—likely benign
rs8860590764:140,375,187C/T—uncertain significance
rs7740877444:140,375,190G/A—uncertain significance
rs131284864:140,375,296C/G—benign
rs7487181224:140,375,302C/T—uncertain significance
rs1826474254:140,375,314C/T—benign
rs8862513664:140,375,363T/C—uncertain significance
rs7777890624:140,375,391G/T—likely benign
rs2013828204:140,375,415C/T—likely benign
rs25305857734:140,375,427G/C—uncertain significance
rs14016713274:140,375,432C/T—uncertain significance
rs13381191684:140,375,443C/T—uncertain significance
rs1475232434:140,375,445C/G—likely benign
rs7665811024:140,375,446A/C—uncertain significance
rs25305859504:140,375,467G/T—uncertain significance
rs9801755144:140,375,476A/C—uncertain significance
rs3715617764:140,375,477A/G—uncertain significance
rs25305859914:140,375,482G/A—uncertain significance
rs1385343674:140,375,484C/G—conflicting classifications of pathogenicity
rs5877769584:140,375,485A/Cmissense variantpathogenic
rs21110674184:140,375,493C/A—pathogenic
rs7539431434:140,375,494C/G—uncertain significance
rs17500213644:140,375,523C/A—uncertain significance
rs13559241184:140,375,527G/T—uncertain significance
rs7658544124:140,375,535C/G—likely benign
rs21110675734:140,375,542A/G—uncertain significance
rs5680074014:140,375,550G/A—conflicting classifications of pathogenicity
rs10853071284:140,375,560C/Tstop gainedpathogenic
rs12221189604:140,375,567G/T—uncertain significance
rs7577099664:140,375,591G/C—uncertain significance
rs7459588074:140,375,595C/T—likely benign
rs7473050094:140,375,608T/C—uncertain significance
rs5653826794:140,393,820C/T—likely benign
rs7803427344:140,393,822T/C—likely benign
rs21110874584:140,393,843C/T—pathogenic
rs1892622524:140,393,848A/G—benign
rs11878616864:140,393,870C/T—pathogenic
rs25306122984:140,393,923C/T—likely benign
rs1425416034:140,393,926C/T—conflicting classifications of pathogenicity
rs1505366644:140,393,927G/A—uncertain significance
rs25306123644:140,393,950T/C—likely benign
rs10853071294:140,393,955T/Cmissense variantpathogenic
rs15610083364:140,393,965A/G—likely benign
rs12959001364:140,393,981G/T—uncertain significance
rs21110876864:140,393,984T/C—uncertain significance
rs7530027924:140,393,985G/T—uncertain significance
rs17504161234:140,393,990C/T—pathogenic
rs9979662124:140,393,993C/T—uncertain significance
rs7794909134:140,394,006A/G—conflicting classifications of pathogenicity
rs2004483164:140,394,007T/G—uncertain significance
rs7631067364:140,394,011A/G—uncertain significance
rs7761470254:140,394,017C/T—uncertain significance
rs7699998434:140,394,022T/C—conflicting classifications of pathogenicity
rs8860447164:140,394,034T/Amissense variantpathogenic
rs21110878174:140,394,045T/A—uncertain significance
rs7635101974:140,394,052T/A—uncertain significance
rs1467356954:140,394,070A/G—likely benign
rs10853071314:140,394,080C/Tstop gainedpathogenic
rs15791837424:140,394,092G/A—uncertain significance
rs1403814594:140,394,120C/T—conflicting classifications of pathogenicity
rs3725678434:140,394,121G/C—benign
rs7502395644:140,394,127T/C—likely benign
rs13053002984:140,394,136C/A—likely benign
rs7470319944:140,394,143A/G—uncertain significance
rs7696051004:140,394,151T/C—likely benign
rs17504201214:140,394,152G/A—uncertain significance
rs21110880164:140,394,163A/G—uncertain significance
rs17504206004:140,394,190G/A—uncertain significance
rs14100355024:140,394,203T/C—uncertain significance
rs7642781214:140,394,261C/T—uncertain significance
rs1398230514:140,394,267C/T—likely benign
rs7581829974:140,394,268G/A—conflicting classifications of pathogenicity
rs7662165654:140,394,271C/T—likely benign
rs21110882174:140,394,280A/C—uncertain significance
rs17504228734:140,394,281A/G—uncertain significance
rs8860590774:140,394,398T/G—uncertain significance
rs10067470254:140,394,426T/A—uncertain significance
rs7604105144:140,394,441C/T—uncertain significance
rs8860590784:140,394,499A/G—uncertain significance
rs781925944:140,394,534A/G—likely benign
rs3689653624:140,394,705T/C—uncertain significance
rs8860590794:140,394,774A/C—uncertain significance
rs41317974:140,394,793C/T—likely benign
rs799520784:140,394,823T/C—likely benign
rs41317984:140,394,856T/C—likely benign
rs786071984:140,394,870T/C—likely benign
rs131379974:140,394,875G/A—likely benign
rs8860590804:140,394,912A/G—uncertain significance
rs1874345694:140,394,981G/T—uncertain significance
rs8860590814:140,395,044G/A—uncertain significance
rs774906004:140,395,056C/T—uncertain significance

Showing 100 of 130 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.