APBA2

amyloid beta precursor protein binding family A member 2

Summary

The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2017]

Known Variants89 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14985947515:29,134,495A/Cintron variant—
rs14015963315:29,137,472C/Tintron variant—
rs1768094515:29,239,817G/Aintron variant—
rs6648173515:29,243,661C/Aintron variant—
rs2839802815:29,249,605C/Tintron variant—
rs7718442315:29,322,932A/G——
rs187328315:29,338,502C/Tintron variant—
rs129259232215:29,346,119G/A—uncertain significance
rs11622129815:29,346,120C/T—benign
rs14979230515:29,346,121G/A—likely benign
rs144766794115:29,346,192G/C—uncertain significance
rs11709882815:29,346,242G/A—benign
rs14267862415:29,346,251G/A—likely benign
rs14135856815:29,346,257C/T—likely benign
rs250819593415:29,346,263A/G—uncertain significance
rs15129506415:29,346,306C/T—likely benign
rs14079596215:29,346,316G/A—uncertain significance
rs11296542515:29,346,348C/T—benign
rs78096921115:29,346,387C/T—likely benign
rs14267369915:29,346,390C/T—benign
rs77221590615:29,346,438C/T—likely benign
rs11156865215:29,346,444G/A—likely benign
rs13799589215:29,346,468C/T—benign
rs20187961915:29,346,513G/A—likely benign
rs14406672015:29,346,518C/T—benign
rs92630210215:29,346,523G/A—uncertain significance
rs75894385815:29,346,527C/T—uncertain significance
rs129570026615:29,346,529C/T—uncertain significance
rs76041983015:29,346,532C/T—uncertain significance
rs37264998815:29,346,573C/T—likely benign
rs14876003915:29,346,590C/T—benign
rs1695500915:29,346,606C/T—benign
rs57498899315:29,346,703G/T—uncertain significance
rs250827248015:29,346,704G/A—uncertain significance
rs11187071015:29,346,705C/T—benign
rs250827427515:29,346,715T/G—uncertain significance
rs14984710715:29,346,718C/T—uncertain significance
rs144035625815:29,346,760G/A—uncertain significance
rs250828418915:29,346,763A/G—uncertain significance
rs14307926815:29,346,774C/T—likely benign
rs15115953715:29,346,819C/T—likely benign
rs75624315715:29,346,820G/T—uncertain significance
rs147450286915:29,346,850G/C—uncertain significance
rs148937900215:29,346,919G/A—uncertain significance
rs250830676715:29,346,925A/G—uncertain significance
rs37096835515:29,346,951C/T—likely benign
rs54753280415:29,363,299C/T—likely benign
rs75979016615:29,367,193A/T—uncertain significance
rs14928540315:29,368,269G/A—likely benign
rs18477647315:29,385,269C/T—likely benign
rs14474131215:29,385,285G/A—likely benign
rs121608710315:29,385,291C/G—uncertain significance
rs37350845815:29,385,334T/C—uncertain significance
rs104252315015:29,385,370C/G—uncertain significance
rs121332260615:29,385,414C/T—likely benign
rs7927275615:29,386,472T/C—benign
rs14001848415:29,386,489A/G—likely benign
rs204373639915:29,386,505A/C—uncertain significance
rs76637605015:29,386,515C/T—uncertain significance
rs37533976115:29,390,721C/T—uncertain significance
rs20220885415:29,393,880C/A—uncertain significance
rs88793010515:29,397,574C/G—likely benign
rs3532277315:29,397,593C/T—benign
rs115709448315:29,397,649A/G—uncertain significance
rs74734837615:29,397,719C/T—likely benign
rs18754232415:29,398,801C/T—benign
rs204442226815:29,398,839C/G—uncertain significance
rs77383967915:29,398,893C/T—likely benign
rs77432664115:29,398,913G/C—uncertain significance
rs803217815:29,398,914C/T—benign
rs14005529715:29,398,920G/A—likely benign
rs75432846715:29,398,931C/T—uncertain significance
rs37688382415:29,398,932G/A—likely benign
rs36996120415:29,398,937A/G—uncertain significance
rs19985556715:29,398,947C/T—likely benign
rs7668737115:29,398,990C/T—benign
rs13881332215:29,400,523G/A—likely benign
rs14484980915:29,406,121G/A—uncertain significance
rs76672059615:29,406,132C/T—likely benign
rs56926297315:29,406,153C/T—likely benign
rs77629173915:29,406,176C/T—uncertain significance
rs37288896415:29,406,181G/A—uncertain significance
rs76648323215:29,406,206A/G—likely benign
rs75980655315:29,406,209C/T—uncertain significance
rs7902360315:29,406,210G/A—benign
rs37706768515:29,409,293T/C—uncertain significance
rs76110689115:29,409,309G/A—likely benign
rs75240860415:29,409,343C/T—likely benign
rs90189493915:29,409,720C/T——

Gene information from NCBI Gene. Variant classifications from ClinVar.