rs1947931415
This variant is located in the YAP1 gene.
▶ClinVar annotation
Uveal coloboma-cleft lip and palate-intellectual disability
View on ClinVar →About YAP1
This gene encodes a downstream nuclear effector of the Hippo signaling pathway which is involved in development, growth, repair, and homeostasis. This gene is known to play a role in the development and progression of multiple cancers as a transcriptional regulator of this signaling pathway and may function as a potential target for cancer treatment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2013]
View all YAP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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