ADGRL1

adhesion G protein-coupled receptor L1

Summary

This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. Latrophilin-1 has been shown to recruit the neurotoxin from black widow spider venom, alpha-latrotoxin, to the synapse plasma membrane. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Oct 2008]

Known Variants130 total

rsidPosition (GRCh37)AllelesClassClinVar
rs75574129819:14,261,704T/G—uncertain significance
rs196811189419:14,261,842T/A—uncertain significance
rs127354723419:14,261,847T/G—uncertain significance
rs126847045419:14,261,867C/T—uncertain significance
rs251269620119:14,261,894T/C—uncertain significance
rs77741672919:14,261,897G/C—uncertain significance
rs119116911319:14,261,911C/T—uncertain significance
rs74701566419:14,261,915C/T—uncertain significance
rs78136097119:14,261,917G/C—uncertain significance
rs75809996619:14,261,956T/C—uncertain significance
rs251269792919:14,261,959A/C—uncertain significance
rs75127025519:14,261,960G/C—uncertain significance
rs251269810719:14,261,964G/T—uncertain significance
rs74594908919:14,261,969G/C—uncertain significance
rs77510881519:14,262,005C/T—uncertain significance
rs13967025419:14,262,011C/G—uncertain significance
rs251269949519:14,262,019C/T—uncertain significance
rs92771700119:14,262,041C/T—uncertain significance
rs77904617619:14,262,121C/T—uncertain significance
rs56236090219:14,262,130C/A—uncertain significance
rs53292922319:14,262,134C/T—uncertain significance
rs99799377719:14,262,161C/T—uncertain significance
rs76631041719:14,262,173C/T—uncertain significance
rs251270555519:14,262,244A/G—uncertain significance
rs141048343319:14,262,245C/T—uncertain significance
rs75752727219:14,262,295C/T—uncertain significance
rs76962252119:14,262,343C/G—uncertain significance
rs76103663919:14,262,383G/T—uncertain significance
rs196826656719:14,262,960T/C—uncertain significance
rs74612630119:14,263,169C/T—uncertain significance
rs19965859019:14,263,205G/A—uncertain significance
rs90717470019:14,263,332G/A—pathogenic
rs147716579519:14,263,365C/T—uncertain significance
rs214461336119:14,263,373G/A—pathogenic
rs142486331219:14,263,382G/A—uncertain significance
rs214461373319:14,263,409A/G—pathogenic
rs251272919419:14,263,422G/A—uncertain significance
rs214461626319:14,263,628G/A—pathogenic
rs93863241319:14,263,640T/C—uncertain significance
rs156856567619:14,263,675C/G—uncertain significance
rs74635389419:14,263,690G/C—uncertain significance
rs251273461619:14,263,694G/A—uncertain significance
rs37442931319:14,263,696C/T—uncertain significance
rs20126161319:14,266,162C/T—likely benign
rs37121308319:14,266,222G/A—likely benign
rs20179045819:14,266,317C/T—uncertain significance
rs75560796219:14,266,331G/A—uncertain significance
rs196879257419:14,267,481A/C—uncertain significance
rs251279239819:14,267,502T/G—uncertain significance
rs214466688819:14,267,505A/G—pathogenic
rs6174112919:14,267,780T/C—uncertain significance
rs75243500219:14,268,098G/A—uncertain significance
rs251280565719:14,268,164C/A—uncertain significance
rs78110086219:14,268,241G/T—pathogenic
rs78019421319:14,268,253T/C—uncertain significance
rs196893524519:14,268,700A/C—likely benign
rs14553585719:14,268,701C/T—uncertain significance
rs251281647719:14,268,702G/A—uncertain significance
rs196894374419:14,268,794G/A—uncertain significance
rs14112842019:14,269,254C/T—uncertain significance
rs36839552519:14,269,284C/T—uncertain significance
rs20059181719:14,269,286G/T—uncertain significance
rs196900123819:14,269,308C/T—uncertain significance
rs92664715919:14,269,986C/T—uncertain significance
rs77565481219:14,270,022C/G—uncertain significance
rs130311808519:14,270,326G/C—uncertain significance
rs251285117519:14,270,346G/C—likely benign
rs251285165719:14,270,358T/A—uncertain significance
rs13825562519:14,270,393C/T—uncertain significance
rs120280431219:14,270,952C/T—uncertain significance
rs20095785319:14,271,027G/A—uncertain significance
rs14989514319:14,271,040C/T—uncertain significance
rs76717013919:14,271,054C/T—uncertain significance
rs251286874419:14,271,060T/C—uncertain significance
rs77752040719:14,271,063C/T—uncertain significance
rs77077982719:14,271,082T/C—uncertain significance
rs13978700719:14,271,101A/G—likely benign
rs128178163419:14,272,126C/T—uncertain significance
rs75681338519:14,272,157G/C—uncertain significance
rs75363650019:14,272,189C/T—uncertain significance
rs143711873119:14,272,202G/A—likely pathogenic
rs37591335319:14,272,252C/T—uncertain significance
rs144832430519:14,272,263G/A—likely benign
rs14705047819:14,272,295G/A—uncertain significance
rs75825094819:14,272,345C/T—uncertain significance
rs115706424719:14,272,364C/T—uncertain significance
rs77507353619:14,272,369G/A—uncertain significance
rs20038242919:14,272,376T/A—likely benign
rs156858344119:14,272,427A/C—uncertain significance
rs37436016519:14,273,415C/T—likely benign
rs129086380419:14,273,424T/C—uncertain significance
rs13896384519:14,273,457G/A—uncertain significance
rs142604565019:14,273,471T/C—uncertain significance
rs75959883319:14,273,514C/T—uncertain significance
rs14479330419:14,273,568G/A—uncertain significance
rs139558962619:14,273,591T/C—likely pathogenic
rs14812878619:14,273,612G/A—uncertain significance
rs20204881019:14,273,631C/T—uncertain significance
rs251292932419:14,273,681G/A—uncertain significance
rs140922383319:14,273,697C/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.