HIP1
huntingtin interacting protein 1
Summary
The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Known Variants105 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1324094726 | 7:75,168,667 | C/T | — | uncertain significance |
| rs61737122 | 7:75,168,668 | A/G | — | likely benign |
| rs145864307 | 7:75,168,677 | G/A | — | likely benign |
| rs1554489425 | 7:75,168,712 | G/A | — | uncertain significance |
| rs781980080 | 7:75,171,257 | C/T | — | uncertain significance |
| rs371815924 | 7:75,171,258 | G/A | — | uncertain significance |
| rs1554489969 | 7:75,171,264 | T/C | — | uncertain significance |
| rs139294983 | 7:75,171,275 | G/A | — | uncertain significance |
| rs140538287 | 7:75,172,179 | C/T | — | uncertain significance |
| rs202078874 | 7:75,172,195 | G/A | — | likely benign |
| rs587705348 | 7:75,172,199 | A/G | — | uncertain significance |
| rs1214651148 | 7:75,172,202 | G/C | — | uncertain significance |
| rs200359500 | 7:75,172,218 | C/T | — | uncertain significance |
| rs782796068 | 7:75,172,242 | G/A | — | uncertain significance |
| rs138335070 | 7:75,172,253 | T/C | — | benign |
| rs1554490259 | 7:75,172,262 | G/T | — | uncertain significance |
| rs1167794 | 7:75,172,270 | G/A | — | benign |
| rs1167796 | 7:75,173,180 | A/G | intron variant | — |
| rs1426243102 | 7:75,174,027 | G/T | — | uncertain significance |
| rs1383187148 | 7:75,174,035 | A/T | — | uncertain significance |
| rs1554490607 | 7:75,174,049 | T/G | — | uncertain significance |
| rs367798980 | 7:75,174,090 | G/A | — | uncertain significance |
| rs1584775590 | 7:75,174,406 | G/C | — | likely benign |
| rs201975785 | 7:75,176,230 | C/T | — | likely benign |
| rs782809924 | 7:75,176,242 | C/T | — | uncertain significance |
| rs782265620 | 7:75,176,243 | G/T | — | uncertain significance |
| rs1371447965 | 7:75,176,253 | A/G | — | uncertain significance |
| rs782695601 | 7:75,176,291 | C/A | — | uncertain significance |
| rs1167801 | 7:75,176,300 | T/C | — | benign |
| rs149128119 | 7:75,177,049 | C/T | — | benign |
| rs146331669 | 7:75,177,068 | A/G | — | uncertain significance |
| rs1040794532 | 7:75,177,095 | G/A | — | uncertain significance |
| rs1554491544 | 7:75,178,200 | C/T | — | uncertain significance |
| rs201456921 | 7:75,178,202 | G/A | — | uncertain significance |
| rs150764598 | 7:75,178,215 | T/C | — | uncertain significance |
| rs373802536 | 7:75,178,230 | C/T | — | uncertain significance |
| rs2484704906 | 7:75,178,233 | C/T | — | uncertain significance |
| rs781850036 | 7:75,178,292 | A/G | — | uncertain significance |
| rs782368574 | 7:75,182,780 | C/G | — | uncertain significance |
| rs117129747 | 7:75,182,802 | T/C | — | benign |
| rs2484723752 | 7:75,182,814 | G/C | — | uncertain significance |
| rs117272174 | 7:75,182,881 | G/A | — | likely benign |
| rs782811114 | 7:75,183,467 | G/A | — | likely benign |
| rs782456927 | 7:75,183,757 | A/C | — | uncertain significance |
| rs1332959578 | 7:75,183,785 | G/A | — | likely benign |
| rs371016754 | 7:75,183,787 | T/C | — | uncertain significance |
| rs1554492818 | 7:75,183,817 | G/C | — | uncertain significance |
| rs138232224 | 7:75,184,840 | G/A | — | conflicting classifications of pathogenicity |
| rs1298976549 | 7:75,185,368 | C/G | — | likely benign |
| rs782201694 | 7:75,185,372 | C/T | — | likely benign |
| rs143541649 | 7:75,185,399 | A/G | — | likely benign |
| rs2484742568 | 7:75,186,025 | T/C | — | uncertain significance |
| rs782563237 | 7:75,186,088 | T/A | — | uncertain significance |
| rs782193137 | 7:75,186,091 | C/T | — | uncertain significance |
| rs146790874 | 7:75,186,963 | G/A | — | benign |
| rs144294774 | 7:75,187,009 | T/C | — | benign |
| rs151075297 | 7:75,187,016 | C/T | — | benign |
| rs140984634 | 7:75,187,476 | G/T | — | benign |
| rs150253964 | 7:75,187,504 | C/T | — | likely benign |
| rs181505727 | 7:75,187,508 | C/A | — | uncertain significance |
| rs77009341 | 7:75,188,681 | G/C | intron variant | — |
| rs782013842 | 7:75,189,027 | A/C | — | likely benign |
| rs747545569 | 7:75,189,065 | T/C | — | uncertain significance |
| rs1225536289 | 7:75,189,110 | C/T | — | uncertain significance |
| rs781878196 | 7:75,189,127 | G/A | — | likely benign |
| rs587630225 | 7:75,189,130 | G/A | — | likely benign |
| rs1475978842 | 7:75,189,143 | C/G | — | uncertain significance |
| rs782774142 | 7:75,190,638 | T/C | — | uncertain significance |
| rs1554494677 | 7:75,191,414 | T/G | — | uncertain significance |
| rs781985767 | 7:75,191,469 | T/C | — | likely benign |
| rs1344245791 | 7:75,191,471 | A/T | — | uncertain significance |
| rs782441483 | 7:75,192,290 | G/A | — | likely benign |
| rs782434689 | 7:75,192,520 | C/T | — | uncertain significance |
| rs182112086 | 7:75,192,525 | G/A | — | likely benign |
| rs1584802171 | 7:75,192,555 | C/G | — | likely benign |
| rs17149023 | 7:75,197,518 | A/T | — | benign |
| rs142660158 | 7:75,197,531 | G/A | — | likely benign |
| rs1554495947 | 7:75,197,560 | C/G | — | uncertain significance |
| rs782003111 | 7:75,203,149 | C/T | — | uncertain significance |
| rs117466457 | 7:75,203,215 | T/C | — | benign |
| rs782057576 | 7:75,210,555 | G/A | — | uncertain significance |
| rs148290305 | 7:75,211,393 | G/A | — | benign |
| rs237238 | 7:75,211,414 | A/G | synonymous variant | benign |
| rs41281105 | 7:75,211,544 | G/A | upstream gene variant | — |
| rs372524247 | 7:75,216,131 | A/G | — | likely benign |
| rs142842968 | 7:75,216,146 | G/T | — | uncertain significance |
| rs201845637 | 7:75,221,402 | T/C | — | uncertain significance |
| rs369879797 | 7:75,221,405 | C/G | — | uncertain significance |
| rs144446822 | 7:75,221,693 | C/T | — | benign |
| rs148400001 | 7:75,221,816 | G/C | — | likely benign |
| rs202080673 | 7:75,221,832 | G/A | — | benign |
| rs1584848885 | 7:75,221,841 | G/A | — | likely benign |
| rs1179624 | 7:75,255,215 | C/T | intron variant | — |
| rs118048475 | 7:75,257,371 | T/C | intron variant | — |
| rs2705789 | 7:75,270,073 | T/A | — | — |
| rs553799339 | 7:75,270,561 | T/G | — | — |
| rs369419487 | 7:75,293,452 | G/T | — | — |
| rs146063533 | 7:75,321,461 | C/T | regulatory region variant | — |
| rs62477603 | 7:75,334,046 | C/T | — | — |
| rs111778729 | 7:75,368,110 | T/C | — | benign |
Showing 100 of 105 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.