RAB23

RAB23, member RAS oncogene family

Summary

This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Known Variants215 total

rsidPosition (GRCh37)AllelesClassClinVar
rs728686086:57,051,929C/T—benign
rs11704314136:57,051,961T/C—uncertain significance
rs1392226576:57,052,070A/G—likely benign
rs5623714306:57,052,130C/G—uncertain significance
rs7490682156:57,052,226G/A—uncertain significance
rs5611337356:57,052,383A/G—uncertain significance
rs5500358866:57,052,490G/T—uncertain significance
rs8962197106:57,052,506C/T—uncertain significance
rs7733954956:57,052,578C/T—uncertain significance
rs5477661656:57,052,673C/T—uncertain significance
rs168883766:57,052,774T/C—benign
rs624159306:57,052,834C/T—benign
rs5718569026:57,052,918G/T—uncertain significance
rs11598905886:57,052,940A/G—uncertain significance
rs122119016:57,052,986G/A—benign
rs9081699836:57,053,014A/G—uncertain significance
rs1911470246:57,053,192T/C—uncertain significance
rs5496840916:57,053,251C/T—uncertain significance
rs3684414726:57,053,442T/C—uncertain significance
rs93826896:57,053,519G/A—benign
rs119692006:57,053,553A/G—likely benign
rs9317468246:57,053,723A/C—uncertain significance
rs7787744586:57,053,725A/C—uncertain significance
rs17647241306:57,053,765T/C—uncertain significance
rs113986:57,053,947T/C—likely benign
rs1826626:57,054,008C/T—uncertain significance
rs5413079256:57,054,128G/C—uncertain significance
rs17647446886:57,054,207A/G—uncertain significance
rs1483723046:57,054,275C/T—likely benign
rs5309009596:57,054,339G/C—uncertain significance
rs17647537106:57,054,409T/C—uncertain significance
rs168883786:57,054,448C/T—benign
rs13870819176:57,054,464C/T—uncertain significance
rs8860616526:57,054,524A/C—uncertain significance
rs1433458466:57,054,537A/G—uncertain significance
rs3758554406:57,054,582A/G—likely benign
rs8860616536:57,054,641T/C—uncertain significance
rs1383111136:57,054,715C/T—uncertain significance
rs14115786:57,054,843C/G—likely benign
rs1895703566:57,055,114A/G—uncertain significance
rs17647909406:57,055,142T/C—uncertain significance
rs13045311526:57,055,178C/A—uncertain significance
rs1422905966:57,055,259T/C—conflicting classifications of pathogenicity
rs7516194876:57,055,261A/C—conflicting classifications of pathogenicity
rs25331649456:57,055,267T/C—uncertain significance
rs25331649576:57,055,268G/T—uncertain significance
rs7554470896:57,055,274G/A—likely benign
rs17647964446:57,055,280A/G—likely benign
rs7816222096:57,055,298C/T—likely benign
rs7486387916:57,055,303T/A—uncertain significance
rs7565360526:57,055,309G/C—uncertain significance
rs15932040046:57,055,331G/A—likely benign
rs13185468066:57,055,346G/A—likely benign
rs10404616:57,055,354C/Tmissense variantlikely benign
rs2021815996:57,055,357A/T—uncertain significance
rs3693073016:57,055,362T/C—uncertain significance
rs7631162546:57,055,366C/T—uncertain significance
rs7712049306:57,055,367G/A—likely benign
rs3723155086:57,055,370G/A—likely benign
rs1512037236:57,055,379A/C—likely benign
rs21279963796:57,055,383G/A—uncertain significance
rs13329304426:57,055,391A/G—likely benign
rs21279963906:57,055,397A/C—likely benign
rs25331659346:57,055,403A/T—likely benign
rs21279963996:57,055,405A/T—likely benign
rs10052717256:57,055,410G/T—likely benign
rs13648833516:57,055,413G/A—likely benign
rs1492957766:57,055,568G/C—likely benign
rs454591996:57,058,612T/C—likely benign
rs25331750406:57,058,620A/C—likely benign
rs7541646166:57,058,630A/G—likely benign
rs7791192686:57,058,632G/A—likely benign
rs17649258486:57,058,633T/C—likely benign
rs7659544426:57,058,659A/G—likely benign
rs2017316106:57,058,662C/T—likely benign
rs1402952816:57,058,663G/A—likely benign
rs21279976596:57,058,665T/C—likely benign
rs14735860286:57,058,667G/A—likely benign
rs3773753866:57,058,668T/G—uncertain significance
rs1504405906:57,058,678T/G—conflicting classifications of pathogenicity
rs2018203206:57,058,680A/G—benign
rs1382176476:57,058,685T/G—uncertain significance
rs21279976776:57,058,688G/A—pathogenic
rs25331754356:57,058,689T/C—likely benign
rs17649294636:57,058,704A/G—likely benign
rs15932073656:57,058,707G/A—likely benign
rs11724178306:57,058,719C/T—likely benign
rs12217147966:57,058,739T/C—likely benign
rs13031945376:57,058,740A/C—likely benign
rs7772594796:57,058,741A/C—likely benign
rs25331756476:57,058,742A/G—likely benign
rs12209788936:57,058,744A/C—likely benign
rs3726660076:57,058,745G/C—likely benign
rs12324722866:57,058,746A/C—likely benign
rs12058909086:57,058,752C/T—likely benign
rs1382498386:57,058,798A/T—likely benign
rs7455916436:57,059,549T/C—likely benign
rs2000857346:57,059,551C/T—benign
rs5460783706:57,059,558G/A—likely benign
rs15932084516:57,059,559G/A—likely benign

Showing 100 of 215 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.