APP

amyloid beta precursor protein

Summary

This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014]

Known Variants437 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs63750847	21:25,897,600	C/T	missense variant	benign
rs45599935	21:27,252,856	A/C	—	likely benign
rs202108412	21:27,252,966	A/C	—	uncertain significance
rs45541739	21:27,253,014	C/T	—	benign
rs736479	21:27,253,067	C/T	—	benign
rs202081585	21:27,253,068	G/C	—	benign
rs2036941224	21:27,253,171	G/A	—	uncertain significance
rs201621005	21:27,253,243	A/G	—	likely benign
rs202132811	21:27,253,246	C/T	—	uncertain significance
rs146774213	21:27,253,257	G/A	—	benign
rs572356515	21:27,253,318	G/A	—	likely benign
rs199680232	21:27,253,357	T/C	—	likely benign
rs45455403	21:27,253,391	G/T	—	likely benign
rs2036961192	21:27,253,460	A/G	—	uncertain significance
rs199862130	21:27,253,492	T/C	—	uncertain significance
rs200492624	21:27,253,527	T/C	—	uncertain significance
rs187940037	21:27,253,609	T/C	—	likely benign
rs1445554583	21:27,253,625	A/C	—	uncertain significance
rs939934369	21:27,253,626	T/C	—	uncertain significance
rs532876832	21:27,253,648	A/G	—	—
rs199534609	21:27,253,692	G/A	—	uncertain significance
rs199977643	21:27,253,787	T/G	—	uncertain significance
rs886056992	21:27,253,884	G/T	—	uncertain significance
rs201729239	21:27,253,963	G/A	—	uncertain significance
rs201922766	21:27,253,974	C/T	—	uncertain significance
rs376555983	21:27,253,975	G/A	—	uncertain significance
rs777073624	21:27,253,979	G/A	—	uncertain significance
rs373482247	21:27,254,009	T/A	—	uncertain significance
rs766455623	21:27,254,013	T/C	—	uncertain significance
rs774518756	21:27,254,023	G/A	—	likely benign
rs2146193044	21:27,254,027	C/T	—	uncertain significance
rs142218254	21:27,254,029	G/A	—	likely benign
rs1381242897	21:27,254,041	C/G	—	uncertain significance
rs2036996538	21:27,254,053	G/A	—	likely benign
rs200396597	21:27,254,054	C/T	—	uncertain significance
rs2146193250	21:27,254,070	C/T	—	uncertain significance
rs145277462	21:27,254,077	G/A	—	likely benign
rs756759593	21:27,254,082	C/T	—	uncertain significance
rs45513597	21:27,254,092	A/G	—	benign
rs1410825490	21:27,254,097	G/A	—	likely benign
rs41276546	21:27,254,140	C/A	—	likely benign
rs2829966	21:27,254,194	C/T	—	benign
rs7278223	21:27,254,218	C/T	—	benign
rs214484	21:27,254,279	C/G	regulatory region variant	benign
rs17001455	21:27,254,298	G/A	—	benign
rs214485	21:27,254,320	A/C	—	benign
rs544806168	21:27,259,262	G/C	—	—
rs2037709275	21:27,264,023	A/G	—	likely benign
rs1569014114	21:27,264,070	C/G	—	uncertain significance
rs63750151	21:27,264,073	C/G	missense variant	not provided
rs63751122	21:27,264,077	A/G	missense variant	not provided
rs2146237857	21:27,264,090	T/G	—	likely pathogenic
rs63749964	21:27,264,095	A/C	missense variant	pathogenic
rs63750264	21:27,264,096	C/A	missense variant	pathogenic
rs145564988	21:27,264,097	G/A	synonymous variant	likely benign
rs63750851	21:27,264,098	A/G	missense variant	pathogenic
rs63750399	21:27,264,099	T/C	missense variant	pathogenic
rs63750627	21:27,264,100	C/T	—	not provided
rs63750868	21:27,264,101	A/G	missense variant	pathogenic
rs63750734	21:27,264,102	C/T	missense variant	pathogenic
rs63750973	21:27,264,104	G/A	missense variant	pathogenic
rs63750643	21:27,264,105	T/C	missense variant	pathogenic
rs749919142	21:27,264,106	C/T	—	likely benign
rs1800557	21:27,264,107	G/A	—	conflicting classifications of pathogenicity
rs63750066	21:27,264,108	C/T	missense variant	pathogenic
rs116650065	21:27,264,112	G/T	—	likely benign
rs201269325	21:27,264,120	C/T	—	conflicting classifications of pathogenicity
rs148888161	21:27,264,121	G/A	—	likely benign
rs200388443	21:27,264,130	G/A	—	likely benign
rs63750921	21:27,264,132	G/C	missense variant	pathogenic
rs2517002686	21:27,264,139	G/C	—	uncertain significance
rs2517002786	21:27,264,159	C/T	—	uncertain significance
rs63749810	21:27,264,165	C/T	missense variant	pathogenic
rs768446605	21:27,264,166	T/C	—	likely benign
rs63751039	21:27,264,167	T/C	missense variant	pathogenic
rs63750579	21:27,264,168	C/T	missense variant	pathogenic
rs63750671	21:27,264,170	G/C	missense variant	pathogenic
rs201724975	21:27,264,175	G/A	—	likely benign
rs2517003008	21:27,264,184	G/A	—	likely benign
rs202051599	21:27,269,875	T/A	—	uncertain significance
rs761685279	21:27,269,881	G/A	—	uncertain significance
rs2038156127	21:27,269,887	A/C	—	uncertain significance
rs199820754	21:27,269,888	T/G	—	likely pathogenic
rs762823452	21:27,269,902	C/T	—	uncertain significance
rs2038158128	21:27,269,903	T/C	—	likely benign
rs63750064	21:27,269,917	C/G	missense variant	pathogenic
rs63749953	21:27,269,919	T/C	—	conflicting classifications of pathogenicity
rs752361848	21:27,269,929	C/G	—	conflicting classifications of pathogenicity
rs2517026912	21:27,269,930	T/G	—	likely benign
rs193922916	21:27,269,931	G/A	missense variant	pathogenic
rs2038161468	21:27,269,937	A/G	—	uncertain significance
rs572842823	21:27,269,938	T/A	—	uncertain significance
rs371425292	21:27,269,939	C/T	—	likely benign
rs1259157720	21:27,269,944	C/T	—	uncertain significance
rs1459466429	21:27,269,945	T/C	—	likely benign
rs147868600	21:27,269,951	G/A	—	likely benign
rs200084346	21:27,269,953	T/A	—	uncertain significance
rs63750363	21:27,269,954	C/G	missense variant	pathogenic
rs200260102	21:27,269,961	G/A	—	uncertain significance
rs749152147	21:27,269,969	A/G	—	likely benign

Showing 100 of 437 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.