rs781483732

This variant is located in the AMOTL1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About AMOTL1

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]

View all AMOTL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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