RAET1G

retinoic acid early transcript 1G

Summary

This gene encodes a member of the major histocompatibility complex (MHC) class I family of proteins. Although the encoded protein includes C-terminal transmembrane and cytoplasmic domains, proteolytic processing results in the removal of these domains and subsequent tethering to the plasma membrane by a glycosylphosphatidylinositol (GPI)-anchor. The encoded protein is one of several related ligands of the natural killer group 2, member D (NKG2D) receptor, which functions as an activating receptor in innate and adaptive immunity. This gene is present in a gene cluster on chromosome 6. [provided by RefSeq, Jul 2015]

Known Variants17 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1449506786:150,239,348A/Tmissense variant
rs12102163576:150,239,442A/Guncertain significance
rs3736389136:150,240,211C/Tuncertain significance
rs2018086856:150,240,275T/Cuncertain significance
rs2001764746:150,240,278T/Clikely benign
rs17785328146:150,240,340A/Guncertain significance
rs24829808786:150,240,376C/Tuncertain significance
rs1817734316:150,240,380C/Tmissense variant
rs7517864806:150,240,404T/Auncertain significance
rs7679290366:150,240,407C/Tlikely benign
rs2003839566:150,240,424T/Cuncertain significance
rs7723981986:150,240,700T/Cuncertain significance
rs7599460056:150,240,721A/Cuncertain significance
rs11569521826:150,240,737G/Auncertain significance
rs14000311516:150,240,746C/Guncertain significance
rs7592641696:150,240,937C/Guncertain significance
rs5444410456:150,244,809C/T

Gene information from NCBI Gene. Variant classifications from ClinVar.