rs11225163
This is a intron variant variant in the YAP1 gene.
▶Research that mentions this SNP (1)
▶Genetic variants in Hippo pathway genesYAP1,TEAD1andTEAD4are associated with melanoma-specific survivalAssociationN=858Hua Yuan et al.(2015)· International Journal of Cancer
This study identified three Hippo pathway gene variants associated with melanoma-specific survival: YAP1 rs11225163 CC (HR=1.79, P=0.007), TEAD1 rs7944031 AG/GG (HR=1.82, P=0.012), and TEAD4 rs1990330 CA/AA (HR=1.56, P=0.037). A combined unfavorable genotype score improved survival prediction accuracy (AUC 82.03% to 84.56%) and patients with three unfavorable genotypes had nearly 6-fold increased death risk.
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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