AMOTL1
angiomotin like 1
Summary
The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Known Variants70 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs76787498 | 11:94,492,002 | C/T | intron variant | — |
| rs202120027 | 11:94,528,291 | C/A | — | uncertain significance |
| rs1951427058 | 11:94,532,621 | G/A | — | uncertain significance |
| rs773678862 | 11:94,532,634 | C/G | — | uncertain significance |
| rs753419394 | 11:94,532,646 | C/T | — | uncertain significance |
| rs755050006 | 11:94,532,679 | G/A | — | uncertain significance |
| rs577312427 | 11:94,532,693 | A/G | — | uncertain significance |
| rs771509658 | 11:94,532,696 | G/A | — | uncertain significance |
| rs2496019436 | 11:94,532,739 | G/A | — | uncertain significance |
| rs2496020401 | 11:94,532,825 | C/T | — | pathogenic |
| rs2496020416 | 11:94,532,826 | G/T | — | uncertain significance |
| rs1951433087 | 11:94,532,835 | C/T | — | conflicting classifications of pathogenicity |
| rs190250592 | 11:94,532,875 | G/A | — | likely benign |
| rs769331401 | 11:94,532,957 | T/C | — | uncertain significance |
| rs774083964 | 11:94,532,973 | A/G | — | uncertain significance |
| rs2496022682 | 11:94,532,996 | G/A | — | uncertain significance |
| rs185089672 | 11:94,533,070 | T/C | — | benign |
| rs371806495 | 11:94,533,087 | C/A | — | uncertain significance |
| rs199694915 | 11:94,533,124 | C/T | — | likely benign |
| rs75684892 | 11:94,533,196 | C/T | — | benign |
| rs373426236 | 11:94,533,201 | C/T | — | uncertain significance |
| rs200480462 | 11:94,533,347 | G/A | — | uncertain significance |
| rs374625010 | 11:94,533,374 | G/A | — | uncertain significance |
| rs775772235 | 11:94,533,385 | C/A | — | uncertain significance |
| rs138059525 | 11:94,533,444 | G/A | missense variant | — |
| rs745958540 | 11:94,533,474 | C/T | — | uncertain significance |
| rs760207446 | 11:94,554,724 | A/G | — | uncertain significance |
| rs765074352 | 11:94,554,736 | C/T | — | uncertain significance |
| rs781483732 | 11:94,554,764 | C/G | — | uncertain significance |
| rs370254208 | 11:94,554,782 | A/G | — | uncertain significance |
| rs751441642 | 11:94,554,797 | C/T | — | uncertain significance |
| rs199723214 | 11:94,554,836 | C/T | — | uncertain significance |
| rs1336157579 | 11:94,563,280 | G/A | — | uncertain significance |
| rs2496168319 | 11:94,563,325 | T/C | — | uncertain significance |
| rs201644645 | 11:94,563,358 | G/A | — | uncertain significance |
| rs927075993 | 11:94,564,640 | G/C | — | uncertain significance |
| rs549410861 | 11:94,564,651 | G/T | — | uncertain significance |
| rs373454469 | 11:94,583,333 | G/A | — | uncertain significance |
| rs189655310 | 11:94,583,385 | G/A | — | benign |
| rs770535059 | 11:94,583,407 | A/T | — | uncertain significance |
| rs2496255249 | 11:94,583,410 | A/C | — | uncertain significance |
| rs199857374 | 11:94,587,164 | T/G | — | uncertain significance |
| rs755187539 | 11:94,587,246 | A/G | — | uncertain significance |
| rs200567187 | 11:94,592,701 | T/C | — | benign |
| rs1169009978 | 11:94,592,708 | C/G | — | uncertain significance |
| rs767859176 | 11:94,592,718 | T/C | — | uncertain significance |
| rs772911456 | 11:94,592,756 | C/T | — | uncertain significance |
| rs754461745 | 11:94,592,841 | A/T | — | uncertain significance |
| rs756409003 | 11:94,592,851 | G/T | — | uncertain significance |
| rs2496300110 | 11:94,592,870 | G/A | — | uncertain significance |
| rs1363998417 | 11:94,598,007 | G/T | — | uncertain significance |
| rs2496317377 | 11:94,598,021 | T/C | — | uncertain significance |
| rs1363526571 | 11:94,599,130 | T/A | — | uncertain significance |
| rs1022953982 | 11:94,599,181 | A/T | — | uncertain significance |
| rs2496322179 | 11:94,599,236 | A/G | — | uncertain significance |
| rs1952876655 | 11:94,599,237 | G/A | — | uncertain significance |
| rs767485257 | 11:94,599,256 | A/G | — | uncertain significance |
| rs926008039 | 11:94,599,262 | G/A | — | uncertain significance |
| rs2496322539 | 11:94,599,277 | C/T | — | uncertain significance |
| rs770405208 | 11:94,602,416 | C/T | — | uncertain significance |
| rs181764487 | 11:94,602,457 | G/A | — | benign |
| rs912368715 | 11:94,602,545 | G/T | — | uncertain significance |
| rs2496336027 | 11:94,602,546 | C/T | — | uncertain significance |
| rs201698567 | 11:94,602,566 | C/T | — | uncertain significance |
| rs200246312 | 11:94,602,587 | C/T | — | uncertain significance |
| rs374295834 | 11:94,602,612 | C/T | — | uncertain significance |
| rs370069240 | 11:94,603,900 | C/G | — | benign |
| rs1188652752 | 11:94,603,914 | A/G | — | uncertain significance |
| rs757885859 | 11:94,603,922 | G/A | — | uncertain significance |
| rs775540268 | 11:94,603,928 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.