RAET1L

retinoic acid early transcript 1L

Summary

RAET1L belongs to the RAET1 family of major histocompatibility complex (MHC) class I-related genes, which are located within a 180-kb cluster on chromosome 6q24.2-q25.3. The REAT1 genes encode glycoproteins that contain extracellular alpha-1 and alpha-2 domains, but they lack the membrane proximal Ig-like alpha-3 domain. Most RAET1 glycoproteins are anchored to the membrane via glycosylphosphatidylinositol (GPI) linkage (Radosavljevic et al., 2002 [PubMed 11827464]).[supplied by OMIM, Mar 2008]

Known Variants22 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs181620867	6:150,340,256	C/G	intron variant	—
rs2483152183	6:150,341,318	A/G	—	uncertain significance
rs147812292	6:150,342,053	G/T	—	uncertain significance
rs141345751	6:150,342,097	C/T	—	uncertain significance
rs147008347	6:150,342,100	A/G	—	likely benign
rs147287797	6:150,342,133	A/T	—	uncertain significance
rs148747435	6:150,342,142	T/A	—	uncertain significance
rs61748299	6:150,342,212	C/T	—	uncertain significance
rs369430003	6:150,342,239	C/T	—	uncertain significance
rs2483154595	6:150,342,272	G/A	—	uncertain significance
rs1170971867	6:150,342,281	C/T	—	uncertain significance
rs201609351	6:150,342,303	T/G	—	benign
rs9479413	6:150,342,310	A/G	—	benign
rs1285244129	6:150,342,311	G/C	—	uncertain significance
rs530963292	6:150,342,313	G/A	—	uncertain significance
rs2483156318	6:150,343,146	C/T	—	uncertain significance
rs1164537248	6:150,343,307	T/G	—	uncertain significance
rs763564111	6:150,343,323	G/A	—	likely benign
rs137965307	6:150,343,352	G/T	—	uncertain significance
rs2483165888	6:150,346,579	A/G	—	uncertain significance
rs770221620	6:150,346,590	G/T	—	likely benign
rs35037735	6:150,347,617	A/C	upstream gene variant	—

Gene information from NCBI Gene. Variant classifications from ClinVar.