APPL1
adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
Summary
The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]
Known Variants141 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs186782833 | 3:57,261,655 | A/T | — | likely benign |
| rs113307246 | 3:57,261,761 | G/C | — | likely benign |
| rs7643644 | 3:57,261,894 | C/T | — | benign |
| rs752732231 | 3:57,261,916 | C/A | — | uncertain significance |
| rs571175742 | 3:57,261,920 | G/A | — | benign |
| rs79282761 | 3:57,261,947 | G/C | — | likely benign |
| rs1171557373 | 3:57,261,958 | G/T | — | uncertain significance |
| rs1329989662 | 3:57,261,961 | C/G | — | uncertain significance |
| rs1003107250 | 3:57,261,975 | G/A | — | likely benign |
| rs7643764 | 3:57,262,028 | C/T | — | benign |
| rs79525643 | 3:57,269,328 | G/C | — | likely benign |
| rs762997147 | 3:57,269,575 | T/C | — | likely benign |
| rs11544592 | 3:57,269,608 | A/G | — | benign |
| rs2471802032 | 3:57,269,656 | G/C | — | uncertain significance |
| rs765656762 | 3:57,269,675 | C/T | — | uncertain significance |
| rs2528756268 | 3:57,271,561 | A/G | — | likely benign |
| rs141978531 | 3:57,271,566 | A/G | — | likely benign |
| rs58211963 | 3:57,271,913 | G/A | — | benign |
| rs367747633 | 3:57,272,055 | C/A | — | likely benign |
| rs150282222 | 3:57,272,078 | T/C | — | likely benign |
| rs147166062 | 3:57,272,115 | C/T | — | likely benign |
| rs2528759616 | 3:57,272,126 | T/C | — | likely benign |
| rs796065047 | 3:57,272,139 | G/A | missense variant | pathogenic |
| rs28578906 | 3:57,272,150 | C/T | — | benign |
| rs114390126 | 3:57,272,359 | C/T | — | likely benign |
| rs775623868 | 3:57,274,515 | T/G | — | uncertain significance |
| rs142276532 | 3:57,274,520 | A/G | — | uncertain significance |
| rs2528770046 | 3:57,276,120 | C/T | — | likely benign |
| rs201150623 | 3:57,276,157 | G/C | — | uncertain significance |
| rs1513470 | 3:57,276,690 | A/G | — | likely benign |
| rs146571495 | 3:57,276,914 | G/A | — | uncertain significance |
| rs77788725 | 3:57,277,124 | A/G | — | likely benign |
| rs757397069 | 3:57,280,177 | G/A | — | uncertain significance |
| rs200733439 | 3:57,280,200 | A/C | — | likely benign |
| rs9833777 | 3:57,280,255 | A/G | — | benign |
| rs143268731 | 3:57,280,546 | C/T | — | likely benign |
| rs148995304 | 3:57,281,406 | C/A | — | benign |
| rs548416830 | 3:57,281,438 | A/C | — | uncertain significance |
| rs745331742 | 3:57,281,487 | T/C | — | uncertain significance |
| rs143447963 | 3:57,281,498 | G/A | — | uncertain significance |
| rs9822033 | 3:57,281,583 | T/C | — | benign |
| rs116751596 | 3:57,281,597 | C/T | — | likely benign |
| rs9826459 | 3:57,282,010 | T/C | — | benign |
| rs184540761 | 3:57,282,266 | A/G | — | likely benign |
| rs1579390197 | 3:57,282,286 | C/A | — | uncertain significance |
| rs1462598855 | 3:57,282,313 | C/T | — | uncertain significance |
| rs373408408 | 3:57,282,319 | C/G | — | uncertain significance |
| rs149863724 | 3:57,282,329 | T/C | — | likely benign |
| rs748607720 | 3:57,282,340 | G/A | — | uncertain significance |
| rs2060785971 | 3:57,282,355 | A/T | — | uncertain significance |
| rs778761278 | 3:57,282,398 | T/C | — | likely benign |
| rs9811405 | 3:57,282,672 | C/T | — | benign |
| rs17057878 | 3:57,283,162 | T/C | — | likely benign |
| rs756623911 | 3:57,283,482 | G/C | — | uncertain significance |
| rs2528786102 | 3:57,283,488 | G/A | — | uncertain significance |
| rs61735096 | 3:57,283,526 | C/G | — | likely benign |
| rs371202748 | 3:57,283,539 | C/A | — | likely benign |
| rs141281784 | 3:57,283,558 | C/T | — | uncertain significance |
| rs746135816 | 3:57,283,574 | A/G | — | likely benign |
| rs141783621 | 3:57,283,607 | C/T | — | benign |
| rs1050189191 | 3:57,286,281 | G/A | — | likely benign |
| rs371514647 | 3:57,286,304 | A/G | — | uncertain significance |
| rs34321969 | 3:57,286,333 | T/C | — | likely benign |
| rs202233713 | 3:57,287,693 | A/G | — | likely benign |
| rs2528795239 | 3:57,287,719 | A/G | — | uncertain significance |
| rs766268541 | 3:57,287,731 | A/G | — | uncertain significance |
| rs3942261 | 3:57,287,950 | G/A | — | benign |
| rs1344931712 | 3:57,290,997 | C/T | — | likely pathogenic |
| rs747613823 | 3:57,291,019 | A/T | — | uncertain significance |
| rs34128429 | 3:57,291,038 | A/G | — | likely benign |
| rs2528801405 | 3:57,291,052 | G/T | — | uncertain significance |
| rs577975726 | 3:57,291,053 | G/T | — | uncertain significance |
| rs772538079 | 3:57,291,056 | C/T | — | likely benign |
| rs948176239 | 3:57,291,057 | G/A | — | uncertain significance |
| rs766376934 | 3:57,291,066 | C/T | — | uncertain significance |
| rs199533180 | 3:57,291,067 | G/A | — | uncertain significance |
| rs765094247 | 3:57,291,089 | C/A | — | likely benign |
| rs60627410 | 3:57,291,119 | C/G | — | likely benign |
| rs1204422055 | 3:57,291,261 | G/T | — | likely benign |
| rs777371735 | 3:57,291,281 | C/T | — | uncertain significance |
| rs35776173 | 3:57,291,288 | C/T | — | likely benign |
| rs759542284 | 3:57,291,289 | G/T | — | likely benign |
| rs1269034922 | 3:57,291,305 | A/G | — | uncertain significance |
| rs761918738 | 3:57,291,322 | A/G | — | uncertain significance |
| rs750982071 | 3:57,291,336 | A/G | — | uncertain significance |
| rs201500452 | 3:57,291,347 | C/G | — | uncertain significance |
| rs144211678 | 3:57,291,364 | T/G | — | likely benign |
| rs1559512528 | 3:57,291,402 | C/G | — | uncertain significance |
| rs116544790 | 3:57,293,012 | A/T | — | likely benign |
| rs200151001 | 3:57,293,057 | C/G | — | uncertain significance |
| rs142763260 | 3:57,293,058 | G/A | — | uncertain significance |
| rs2528806317 | 3:57,293,074 | A/G | — | likely benign |
| rs754877013 | 3:57,293,081 | G/A | — | uncertain significance |
| rs778709990 | 3:57,293,090 | A/C | — | uncertain significance |
| rs925566 | 3:57,293,297 | T/C | — | benign |
| rs62251992 | 3:57,293,802 | A/G | — | benign |
| rs1189508652 | 3:57,293,878 | A/G | — | uncertain significance |
| rs1297442237 | 3:57,293,934 | T/A | — | uncertain significance |
| rs1368901347 | 3:57,293,935 | G/T | — | uncertain significance |
| rs781165009 | 3:57,293,944 | G/A | — | uncertain significance |
Showing 100 of 141 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.