SIPA1
signal-induced proliferation-associated 1
Summary
The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localized to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterized to date. [provided by RefSeq, Jul 2008]
Known Variants78 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs931127 | 11:65,405,300 | G/A | regulatory region variant | — |
| rs3782086 | 11:65,406,869 | C/T | downstream gene variant | — |
| rs2496748882 | 11:65,408,402 | T/C | — | uncertain significance |
| rs1446357066 | 11:65,408,408 | G/A | — | uncertain significance |
| rs1286558072 | 11:65,408,417 | G/T | — | uncertain significance |
| rs368104019 | 11:65,408,427 | G/A | — | uncertain significance |
| rs781439867 | 11:65,408,459 | C/T | — | uncertain significance |
| rs1300364060 | 11:65,408,504 | C/T | — | uncertain significance |
| rs763573101 | 11:65,408,531 | C/T | — | uncertain significance |
| rs2496750203 | 11:65,408,541 | T/C | — | uncertain significance |
| rs749786246 | 11:65,408,567 | G/A | — | uncertain significance |
| rs202042635 | 11:65,408,603 | C/T | — | uncertain significance |
| rs2496750701 | 11:65,408,609 | C/G | — | uncertain significance |
| rs1005780361 | 11:65,408,613 | G/A | — | uncertain significance |
| rs2496750852 | 11:65,408,629 | C/G | — | uncertain significance |
| rs369521345 | 11:65,408,651 | C/T | — | uncertain significance |
| rs3741379 | 11:65,408,708 | G/T | missense variant | benign |
| rs2496751471 | 11:65,408,730 | C/A | — | uncertain significance |
| rs2496751528 | 11:65,408,747 | T/C | — | uncertain significance |
| rs1590917647 | 11:65,408,759 | A/G | — | uncertain significance |
| rs760010599 | 11:65,408,859 | C/T | — | uncertain significance |
| rs3741378 | 11:65,408,937 | C/T | missense variant | — |
| rs1189247456 | 11:65,409,955 | A/G | — | uncertain significance |
| rs148141070 | 11:65,410,046 | G/A | — | uncertain significance |
| rs2448490 | 11:65,412,035 | G/C | — | — |
| rs781596920 | 11:65,412,443 | G/C | — | uncertain significance |
| rs756648743 | 11:65,412,444 | G/A | — | uncertain significance |
| rs768761649 | 11:65,412,466 | C/T | — | uncertain significance |
| rs201118568 | 11:65,412,478 | C/T | — | uncertain significance |
| rs143032413 | 11:65,412,505 | A/C | — | uncertain significance |
| rs756702219 | 11:65,412,530 | T/G | — | uncertain significance |
| rs75861149 | 11:65,412,545 | C/T | — | benign |
| rs780991840 | 11:65,412,573 | A/G | — | uncertain significance |
| rs768426305 | 11:65,413,343 | A/G | — | uncertain significance |
| rs376293999 | 11:65,413,371 | C/A | — | uncertain significance |
| rs1006757780 | 11:65,413,416 | T/A | — | uncertain significance |
| rs368831022 | 11:65,413,419 | C/G | — | uncertain significance |
| rs1127381 | 11:65,413,831 | C/T | — | uncertain significance |
| rs933429148 | 11:65,414,019 | C/T | — | uncertain significance |
| rs763953944 | 11:65,414,070 | G/A | — | uncertain significance |
| rs1487894784 | 11:65,414,210 | C/T | — | uncertain significance |
| rs986708299 | 11:65,414,283 | T/G | — | likely benign |
| rs1186631808 | 11:65,414,289 | C/A | — | uncertain significance |
| rs1441109320 | 11:65,414,310 | C/T | — | uncertain significance |
| rs370149586 | 11:65,414,373 | C/T | — | uncertain significance |
| rs1258400275 | 11:65,414,378 | G/A | — | uncertain significance |
| rs753072102 | 11:65,414,501 | G/A | — | uncertain significance |
| rs2075660 | 11:65,414,709 | C/A | regulatory region variant | — |
| rs780176364 | 11:65,414,879 | C/G | — | uncertain significance |
| rs1856149747 | 11:65,414,894 | C/A | — | uncertain significance |
| rs749555161 | 11:65,414,904 | G/A | — | uncertain significance |
| rs1024721867 | 11:65,414,923 | C/G | — | uncertain significance |
| rs199717374 | 11:65,414,949 | C/T | — | uncertain significance |
| rs867052046 | 11:65,414,972 | G/A | — | uncertain significance |
| rs2496787853 | 11:65,415,041 | C/T | — | uncertain significance |
| rs904503979 | 11:65,415,059 | C/G | — | uncertain significance |
| rs548965400 | 11:65,415,105 | C/A | — | uncertain significance |
| rs199827399 | 11:65,416,753 | C/T | — | likely benign |
| rs752725719 | 11:65,416,759 | C/T | — | uncertain significance |
| rs371645890 | 11:65,416,798 | T/G | — | uncertain significance |
| rs150937195 | 11:65,416,851 | C/T | — | conflicting classifications of pathogenicity |
| rs1240295476 | 11:65,416,872 | G/A | — | likely benign |
| rs762999117 | 11:65,417,122 | C/G | — | uncertain significance |
| rs747257834 | 11:65,417,234 | C/A | — | uncertain significance |
| rs1856221341 | 11:65,417,244 | C/T | — | uncertain significance |
| rs746011767 | 11:65,417,271 | C/T | — | uncertain significance |
| rs1856223648 | 11:65,417,315 | C/G | — | uncertain significance |
| rs371556373 | 11:65,417,427 | C/T | — | uncertain significance |
| rs746429 | 11:65,417,434 | G/A | synonymous variant | — |
| rs72556578 | 11:65,417,436 | G/T | — | benign |
| rs2496802337 | 11:65,417,442 | G/A | — | likely benign |
| rs756667031 | 11:65,418,059 | C/T | — | uncertain significance |
| rs2496806448 | 11:65,418,083 | T/C | — | uncertain significance |
| rs151177280 | 11:65,418,094 | A/C | — | uncertain significance |
| rs532009565 | 11:65,418,100 | C/T | — | uncertain significance |
| rs371548442 | 11:65,418,133 | C/T | — | uncertain significance |
| rs1455329373 | 11:65,418,160 | G/C | — | uncertain significance |
| rs567710524 | 11:65,418,175 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.