HAP1
huntingtin associated protein 1
Summary
Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Known Variants75 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs148503989 | 17:39,880,963 | G/A | — | uncertain significance |
| rs34381648 | 17:39,880,966 | G/T | — | benign |
| rs34044330 | 17:39,881,003 | C/T | — | benign |
| rs781814942 | 17:39,881,032 | T/G | — | uncertain significance |
| rs150055368 | 17:39,881,047 | C/A | — | uncertain significance |
| rs199846918 | 17:39,881,048 | G/A | — | uncertain significance |
| rs1555588268 | 17:39,881,105 | G/C | — | uncertain significance |
| rs368895537 | 17:39,881,152 | T/G | — | uncertain significance |
| rs34453339 | 17:39,881,250 | C/T | — | benign |
| rs140284849 | 17:39,881,251 | G/A | — | uncertain significance |
| rs574755321 | 17:39,881,288 | C/T | — | uncertain significance |
| rs34853043 | 17:39,881,299 | G/A | — | benign |
| rs782272213 | 17:39,881,304 | C/T | — | likely benign |
| rs149550090 | 17:39,881,320 | C/T | — | uncertain significance |
| rs41314644 | 17:39,881,327 | T/C | — | benign |
| rs148555329 | 17:39,881,369 | G/A | — | uncertain significance |
| rs782302181 | 17:39,881,380 | C/T | — | uncertain significance |
| rs199819567 | 17:39,883,309 | C/T | — | uncertain significance |
| rs782470877 | 17:39,883,349 | C/T | — | likely benign |
| rs4523977 | 17:39,883,350 | G/A | missense variant | benign |
| rs374580379 | 17:39,883,370 | C/A | — | likely benign |
| rs2543932720 | 17:39,884,027 | T/C | — | uncertain significance |
| rs1172536598 | 17:39,884,033 | T/C | — | uncertain significance |
| rs782173556 | 17:39,884,048 | G/A | — | uncertain significance |
| rs35612698 | 17:39,884,065 | A/C | — | benign |
| rs554936057 | 17:39,884,092 | G/A | — | likely benign |
| rs1380578349 | 17:39,884,095 | G/A | — | likely benign |
| rs573288812 | 17:39,884,458 | G/A | — | uncertain significance |
| rs200616359 | 17:39,884,464 | G/A | — | uncertain significance |
| rs202050338 | 17:39,884,485 | G/C | — | uncertain significance |
| rs782547102 | 17:39,884,544 | A/G | — | uncertain significance |
| rs147253461 | 17:39,884,547 | A/G | — | benign |
| rs782377145 | 17:39,884,578 | C/T | — | uncertain significance |
| rs782136478 | 17:39,887,763 | C/G | — | uncertain significance |
| rs116828637 | 17:39,887,770 | G/A | — | benign |
| rs782208161 | 17:39,887,799 | C/T | — | likely benign |
| rs782720838 | 17:39,887,985 | C/T | — | uncertain significance |
| rs1271283829 | 17:39,888,204 | C/G | — | uncertain significance |
| rs904641902 | 17:39,888,237 | T/G | — | uncertain significance |
| rs367686128 | 17:39,888,262 | C/T | — | uncertain significance |
| rs145563139 | 17:39,888,292 | C/T | — | uncertain significance |
| rs782074480 | 17:39,888,339 | C/G | — | uncertain significance |
| rs782589621 | 17:39,888,487 | C/T | — | uncertain significance |
| rs782053513 | 17:39,888,556 | G/T | — | uncertain significance |
| rs540471095 | 17:39,888,571 | G/A | — | likely benign |
| rs142535684 | 17:39,888,636 | G/T | — | likely benign |
| rs148098241 | 17:39,888,642 | A/T | — | uncertain significance |
| rs150649126 | 17:39,888,985 | A/G | — | uncertain significance |
| rs2543954100 | 17:39,889,020 | T/C | — | uncertain significance |
| rs782342567 | 17:39,889,032 | G/A | — | uncertain significance |
| rs781819344 | 17:39,889,057 | G/C | — | likely benign |
| rs918174086 | 17:39,890,441 | G/A | — | uncertain significance |
| rs2543960308 | 17:39,890,447 | C/T | — | uncertain significance |
| rs781969405 | 17:39,890,507 | C/T | — | uncertain significance |
| rs1196983393 | 17:39,890,510 | G/A | — | uncertain significance |
| rs189020240 | 17:39,890,541 | G/A | — | likely benign |
| rs551033053 | 17:39,890,543 | G/A | — | uncertain significance |
| rs181373328 | 17:39,890,576 | C/T | — | benign |
| rs782253042 | 17:39,890,598 | G/C | — | uncertain significance |
| rs373030963 | 17:39,890,612 | T/A | — | uncertain significance |
| rs369101954 | 17:39,890,666 | G/A | — | uncertain significance |
| rs77781133 | 17:39,890,691 | T/C | — | likely benign |
| rs782063686 | 17:39,890,709 | A/G | — | uncertain significance |
| rs370962745 | 17:39,890,723 | G/A | — | uncertain significance |
| rs143963784 | 17:39,890,726 | G/C | — | uncertain significance |
| rs782475050 | 17:39,890,732 | G/C | — | uncertain significance |
| rs782246902 | 17:39,890,777 | G/A | — | uncertain significance |
| rs34106519 | 17:39,890,813 | C/T | — | benign |
| rs1555592335 | 17:39,890,824 | T/C | — | likely benign |
| rs562563236 | 17:39,890,858 | C/A | — | uncertain significance |
| rs149889145 | 17:39,890,861 | C/T | — | uncertain significance |
| rs201166499 | 17:39,890,865 | G/A | — | likely benign |
| rs887083206 | 17:39,890,873 | C/A | — | uncertain significance |
| rs1344047535 | 17:39,890,879 | G/A | — | uncertain significance |
| rs550216862 | 17:39,891,201 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.