PLEKHA7

pleckstrin homology domain containing A7

Summary

Enables delta-catenin binding activity. Involved in epithelial cell-cell adhesion; pore complex assembly; and zonula adherens maintenance. Located in several cellular components, including centrosome; nucleoplasm; and zonula adherens. Part of pore complex. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants150 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88913145911:16,804,425C/Tlikely benign
rs6174533211:16,805,267G/Alikely benign
rs475743311:16,805,342G/Abenign
rs144022348811:16,810,641A/Clikely pathogenic
rs57612633011:16,810,665G/Auncertain significance
rs127458273911:16,810,669G/Auncertain significance
rs37252556411:16,810,697C/Tlikely benign
rs15071447211:16,810,755C/Tuncertain significance
rs75679208811:16,810,781T/Glikely benign
rs77861104011:16,810,784A/Glikely benign
rs14988356811:16,810,811T/Glikely benign
rs75374456611:16,811,324G/Auncertain significance
rs36833454811:16,811,329G/Tuncertain significance
rs56644331111:16,811,363G/Auncertain significance
rs75898589411:16,812,358C/Tlikely benign
rs74640130411:16,812,414C/Tuncertain significance
rs11688560211:16,812,551C/Tbenign
rs76141497911:16,812,560T/Cuncertain significance
rs124163654211:16,812,562G/Auncertain significance
rs75635157311:16,812,609G/Alikely benign
rs15133054211:16,812,666T/Alikely benign
rs76686932011:16,812,676G/Auncertain significance
rs20061705111:16,812,713C/Tuncertain significance
rs137287338711:16,816,052T/Cuncertain significance
rs36910910211:16,816,110C/Tlikely benign
rs20059548411:16,816,159C/Tlikely benign
rs36773652011:16,816,231G/Auncertain significance
rs213427567511:16,816,235G/Auncertain significance
rs75001973611:16,816,251C/Tlikely benign
rs76595449511:16,816,253T/Cuncertain significance
rs57217464811:16,816,558G/Auncertain significance
rs19050106611:16,816,569A/Glikely benign
rs76959696311:16,822,511A/Glikely benign
rs14930127211:16,822,561T/Guncertain significance
rs20216621411:16,822,599T/Clikely benign
rs14607001311:16,822,604T/Cbenign
rs20071230211:16,823,312C/Guncertain significance
rs21648911:16,823,736G/T
rs18699478811:16,824,257G/Aintron variant
rs95233750611:16,824,547T/Cconflicting classifications of pathogenicity
rs3455645811:16,824,599T/Clikely benign
rs76350892911:16,824,778G/Cuncertain significance
rs75873620111:16,824,784C/Tuncertain significance
rs249567920111:16,824,835C/Auncertain significance
rs141754895211:16,824,842T/Cuncertain significance
rs184949652511:16,834,682T/Clikely pathogenic
rs75782645911:16,838,356G/Alikely benign
rs53607925111:16,838,381T/Auncertain significance
rs116407363011:16,838,382C/Tuncertain significance
rs14655499911:16,838,416C/Alikely benign
rs20063193611:16,838,460G/Auncertain significance
rs77298979411:16,838,501G/Auncertain significance
rs14503610611:16,838,526A/Tlikely benign
rs249616511911:16,838,531G/Tuncertain significance
rs74960866011:16,838,555C/Tuncertain significance
rs75758512411:16,838,556G/Auncertain significance
rs76886153811:16,838,582C/Tlikely pathogenic
rs54326978811:16,838,628G/Auncertain significance
rs74705849511:16,838,633T/Auncertain significance
rs14024902211:16,838,641G/Abenign
rs76019236211:16,838,666C/Tuncertain significance
rs20154300211:16,838,676G/Alikely pathogenic
rs13808108311:16,838,679G/Auncertain significance
rs125958584611:16,838,745T/Cuncertain significance
rs249617943111:16,838,757G/Cuncertain significance
rs3549749811:16,838,758C/Tbenign
rs11292627211:16,838,852G/Auncertain significance
rs102761711:16,842,787G/Aintron variant
rs76540260311:16,847,715A/Guncertain significance
rs14574717911:16,847,718T/Clikely benign
rs14737146111:16,847,782C/Tuncertain significance
rs7941183711:16,847,807A/Glikely benign
rs77697680111:16,847,811G/Auncertain significance
rs57632546611:16,847,826C/Tuncertain significance
rs102855404811:16,847,833T/Cuncertain significance
rs37226740411:16,847,905C/Tuncertain significance
rs37563158811:16,847,912C/Tlikely benign
rs15007053411:16,847,937C/Tuncertain significance
rs185064929511:16,847,962C/Guncertain significance
rs20063813011:16,847,988T/Auncertain significance
rs76163735011:16,847,996C/Auncertain significance
rs77111834311:16,848,030C/Tlikely benign
rs56750324911:16,848,048G/Auncertain significance
rs7914347211:16,848,067A/Gbenign
rs37706543411:16,848,090G/Auncertain significance
rs14609134911:16,848,096T/Auncertain significance
rs75153078411:16,848,117C/Tuncertain significance
rs56741584711:16,854,631G/A
rs38228011:16,857,799C/Tintron variant
rs87923570111:16,863,169G/Auncertain significance
rs140218225311:16,863,196A/Guncertain significance
rs3587327411:16,863,210G/Clikely benign
rs3590814411:16,863,245G/Tbenign
rs6175545711:16,863,247G/Auncertain significance
rs3506803911:16,863,259G/Auncertain significance
rs57184967911:16,863,272G/Alikely benign
rs36659011:16,872,440G/Aintron variant
rs14477796411:16,872,754C/Tuncertain significance
rs102826403211:16,872,791C/Tuncertain significance
rs133350159311:16,872,800G/Auncertain significance

Showing 100 of 150 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.