ARHGAP26
Rho GTPase activating protein 26
Summary
Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]
Known Variants62 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs746886307 | 5:142,150,385 | A/G | — | uncertain significance |
| rs10042074 | 5:142,150,942 | T/C | — | benign |
| rs9324897 | 5:142,168,459 | G/C | intron variant | — |
| rs975495910 | 5:142,252,983 | G/T | — | uncertain significance |
| rs2533376062 | 5:142,253,033 | G/A | — | uncertain significance |
| rs185200 | 5:142,254,679 | A/G | — | benign |
| rs587778050 | 5:142,254,731 | C/T | — | not provided |
| rs144661167 | 5:142,258,953 | C/T | — | benign |
| rs762777887 | 5:142,258,954 | G/A | — | uncertain significance |
| rs534294357 | 5:142,264,908 | A/G | — | uncertain significance |
| rs74628507 | 5:142,281,493 | A/G | — | benign |
| rs2534144973 | 5:142,281,583 | G/C | — | uncertain significance |
| rs764237489 | 5:142,281,594 | G/A | — | uncertain significance |
| rs27899 | 5:142,283,595 | G/C | intron variant | — |
| rs1598186102 | 5:142,287,368 | G/A | — | uncertain significance |
| rs768679608 | 5:142,292,845 | G/A | — | uncertain significance |
| rs139391817 | 5:142,311,690 | T/C | — | not provided |
| rs245828 | 5:142,414,146 | G/A | intron variant | — |
| rs541692751 | 5:142,416,776 | G/A | — | uncertain significance |
| rs2270068 | 5:142,421,415 | T/G | — | benign |
| rs121918546 | 5:142,421,420 | A/G | missense variant | pathogenic |
| rs754571590 | 5:142,421,464 | C/T | — | likely benign |
| rs2578596 | 5:142,425,375 | C/G | — | — |
| rs146954969 | 5:142,434,034 | A/G | — | uncertain significance |
| rs3776331 | 5:142,441,794 | T/C | intron variant | — |
| rs35548690 | 5:142,456,486 | A/G | — | — |
| rs145613835 | 5:142,464,438 | C/T | intron variant | — |
| rs184923695 | 5:142,477,319 | G/A | intron variant | — |
| rs3776316 | 5:142,481,286 | C/A | intron variant | — |
| rs3815199 | 5:142,500,344 | C/T | intron variant | — |
| rs141872257 | 5:142,500,683 | A/G | — | likely benign |
| rs930412391 | 5:142,500,701 | A/C | — | uncertain significance |
| rs112919594 | 5:142,500,706 | C/T | — | likely benign |
| rs367794102 | 5:142,513,543 | C/T | — | likely benign |
| rs771697394 | 5:142,513,544 | G/A | — | uncertain significance |
| rs190103100 | 5:142,513,559 | C/T | — | uncertain significance |
| rs138201954 | 5:142,513,568 | G/C | — | uncertain significance |
| rs751805271 | 5:142,513,587 | G/A | — | uncertain significance |
| rs587778048 | 5:142,513,608 | A/G | — | not provided |
| rs770972810 | 5:142,513,649 | A/G | — | likely benign |
| rs200573018 | 5:142,513,662 | C/T | — | uncertain significance |
| rs200135480 | 5:142,526,786 | T/C | — | likely benign |
| rs2539348542 | 5:142,526,801 | C/A | — | uncertain significance |
| rs1197611926 | 5:142,526,877 | G/A | — | uncertain significance |
| rs61749638 | 5:142,526,905 | C/T | — | likely benign |
| rs142158613 | 5:142,526,928 | C/A | — | uncertain significance |
| rs986564 | 5:142,547,161 | A/T | intron variant | — |
| rs7705069 | 5:142,562,666 | A/T | regulatory region variant | — |
| rs3776232 | 5:142,565,826 | C/A | — | — |
| rs59900779 | 5:142,570,398 | T/C | upstream gene variant | — |
| rs13188339 | 5:142,572,026 | C/T | upstream gene variant | — |
| rs866743500 | 5:142,586,764 | C/A | — | uncertain significance |
| rs2540276942 | 5:142,586,797 | C/A | — | uncertain significance |
| rs1223806659 | 5:142,586,828 | G/A | — | uncertain significance |
| rs144980456 | 5:142,586,869 | G/A | — | likely benign |
| rs562055157 | 5:142,586,942 | A/G | — | not provided |
| rs764360414 | 5:142,586,966 | A/G | — | uncertain significance |
| rs76863574 | 5:142,593,625 | G/A | — | benign |
| rs587778049 | 5:142,593,647 | G/A | — | uncertain significance |
| rs258819 | 5:142,593,652 | C/T | — | benign |
| rs989365937 | 5:142,601,997 | G/A | — | uncertain significance |
| rs187729 | 5:142,605,569 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.