MAPT
microtubule associated protein tau
Summary
This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008]
Known Variants532 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs8065165 | 17:43,970,317 | C/T | upstream gene variant | — |
| rs886053021 | 17:43,971,755 | C/A | — | uncertain significance |
| rs886053022 | 17:43,971,756 | G/A | — | uncertain significance |
| rs886053023 | 17:43,971,760 | G/T | — | uncertain significance |
| rs11575895 | 17:43,971,785 | A/G | — | benign |
| rs886053024 | 17:43,971,825 | C/T | — | uncertain significance |
| rs1021756382 | 17:43,971,829 | C/T | — | uncertain significance |
| rs550530601 | 17:43,971,835 | C/G | — | uncertain significance |
| rs886053025 | 17:43,971,893 | G/C | — | uncertain significance |
| rs886053026 | 17:43,971,907 | G/T | — | uncertain significance |
| rs886053027 | 17:43,971,929 | G/A | — | uncertain significance |
| rs62056779 | 17:43,971,937 | C/A | — | benign |
| rs886053029 | 17:43,972,044 | G/T | — | uncertain significance |
| rs3744456 | 17:43,972,176 | C/G | — | benign |
| rs113161176 | 17:43,974,354 | G/A | regulatory region variant | — |
| rs9303523 | 17:43,976,684 | T/C | upstream gene variant | — |
| rs1864325 | 17:43,977,827 | C/T | upstream gene variant | — |
| rs28646281 | 17:43,977,846 | T/G | upstream gene variant | — |
| rs1560312 | 17:43,978,988 | A/G | intron variant | — |
| rs930119 | 17:43,979,972 | A/G | intron variant | — |
| rs150593131 | 17:43,982,311 | T/C | downstream gene variant | — |
| rs3785879 | 17:43,985,636 | C/T | coding sequence variant | — |
| rs1467967 | 17:43,986,179 | G/C | — | — |
| rs2435204 | 17:43,988,205 | A/G | upstream gene variant | — |
| rs62056842 | 17:43,991,515 | T/G | upstream gene variant | — |
| rs35908989 | 17:43,994,021 | T/C | intron variant | — |
| rs9904290 | 17:44,002,271 | A/G | intron variant | — |
| rs112166495 | 17:44,005,361 | G/A | intron variant | — |
| rs79857651 | 17:44,013,475 | G/C | — | — |
| rs56072903 | 17:44,013,966 | T/C | — | — |
| rs12150229 | 17:44,015,446 | A/G | intron variant | — |
| rs572329978 | 17:44,016,471 | T/C | — | — |
| rs11653258 | 17:44,017,725 | G/T | intron variant | — |
| rs62061733 | 17:44,018,399 | A/G | intron variant | — |
| rs62061734 | 17:44,018,488 | T/A | — | — |
| rs7210219 | 17:44,018,519 | T/C | intron variant | — |
| rs112568425 | 17:44,019,103 | T/C | — | — |
| rs111825734 | 17:44,019,107 | T/G | intron variant | — |
| rs242557 | 17:44,019,712 | G/A | regulatory region variant | — |
| rs2316784 | 17:44,021,699 | G/T | intron variant | — |
| rs62062789 | 17:44,025,033 | T/C | intron variant | — |
| rs242559 | 17:44,025,888 | C/T | — | — |
| rs242561 | 17:44,026,548 | T/C | regulatory region variant | — |
| rs242562 | 17:44,026,739 | G/A | regulatory region variant | — |
| rs17650842 | 17:44,037,491 | A/G | intron variant | — |
| rs62063281 | 17:44,038,785 | A/T | — | — |
| rs242554 | 17:44,039,365 | C/T | — | benign |
| rs111520035 | 17:44,039,410 | A/G | — | benign |
| rs145236675 | 17:44,039,472 | C/T | — | likely benign |
| rs17650872 | 17:44,039,516 | G/T | — | benign |
| rs17650901 | 17:44,039,691 | A/G | — | benign |
| rs2509439219 | 17:44,039,707 | G/T | — | uncertain significance |
| rs974837695 | 17:44,039,713 | C/A | — | uncertain significance |
| rs766166210 | 17:44,039,716 | C/T | — | conflicting classifications of pathogenicity |
| rs63750959 | 17:44,039,717 | G/T | missense variant | pathogenic |
| rs769584478 | 17:44,039,721 | G/A | — | likely benign |
| rs762595428 | 17:44,039,728 | G/A | — | uncertain significance |
| rs1262800598 | 17:44,039,734 | A/C | — | uncertain significance |
| rs375852870 | 17:44,039,739 | A/G | — | likely benign |
| rs760999100 | 17:44,039,742 | T/C | — | likely benign |
| rs759306195 | 17:44,039,745 | C/T | — | likely benign |
| rs755131800 | 17:44,039,750 | G/T | — | uncertain significance |
| rs144611688 | 17:44,039,753 | C/T | — | likely benign |
| rs63750811 | 17:44,039,757 | C/T | — | likely benign |
| rs746904464 | 17:44,039,758 | G/A | — | uncertain significance |
| rs757284182 | 17:44,039,761 | T/C | — | likely benign |
| rs1430583458 | 17:44,039,763 | G/C | — | uncertain significance |
| rs781076528 | 17:44,039,765 | G/T | — | uncertain significance |
| rs200084740 | 17:44,039,766 | G/A | — | likely benign |
| rs193920967 | 17:44,039,772 | G/C | — | uncertain significance |
| rs769331823 | 17:44,039,783 | G/A | — | conflicting classifications of pathogenicity |
| rs374996228 | 17:44,039,792 | C/T | — | uncertain significance |
| rs1598169231 | 17:44,039,793 | C/A | — | likely benign |
| rs193920968 | 17:44,039,803 | G/T | — | uncertain significance |
| rs966689443 | 17:44,039,813 | G/T | — | uncertain significance |
| rs63750529 | 17:44,039,820 | G/A | — | likely benign |
| rs191362093 | 17:44,039,823 | C/T | — | likely benign |
| rs115239819 | 17:44,039,824 | G/A | — | uncertain significance |
| rs2509445220 | 17:44,039,843 | G/A | — | likely benign |
| rs758376338 | 17:44,039,852 | T/C | — | likely benign |
| rs55780945 | 17:44,040,120 | C/T | — | benign |
| rs35838379 | 17:44,040,184 | A/C | — | — |
| rs55709241 | 17:44,041,101 | T/C | intron variant | — |
| rs56280951 | 17:44,041,107 | G/A | intron variant | — |
| rs112003311 | 17:44,042,939 | G/T | — | — |
| rs111751251 | 17:44,042,951 | C/A | — | — |
| rs17650991 | 17:44,044,508 | A/G | — | — |
| rs113925422 | 17:44,046,934 | T/A | intron variant | — |
| rs62063298 | 17:44,048,323 | G/T | intron variant | — |
| rs77566074 | 17:44,048,936 | C/A | — | — |
| rs62063303 | 17:44,049,133 | T/C | — | benign |
| rs887445106 | 17:44,049,205 | G/C | — | likely benign |
| rs764226855 | 17:44,049,225 | A/T | — | uncertain significance |
| rs2071713913 | 17:44,049,241 | C/T | — | likely benign |
| rs1263653688 | 17:44,049,244 | C/A | — | likely benign |
| rs1196222070 | 17:44,049,250 | G/C | — | uncertain significance |
| rs750428288 | 17:44,049,253 | C/T | — | uncertain significance |
| rs143138715 | 17:44,049,267 | C/T | — | conflicting classifications of pathogenicity |
| rs370131551 | 17:44,049,268 | G/C | — | likely benign |
| rs778599496 | 17:44,049,296 | A/G | — | uncertain significance |
Showing 100 of 532 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.