YAP1 Chromosome 11
Yes1 associated transcriptional regulator
Upload your DNA to see your personal genotypes for variants in YAP1.
What This Gene Does
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]
Associated Conditions (3)
Multiple myeloma
Uveal coloboma-cleft lip and palate-intellectual disability
Congenital ocular coloboma
Key Variants
RS777581023
Conflicting classifications of pathogenicity
Health Risk
RS1591100766
Likely pathogenic
Multiple myeloma, Multiple myeloma
Health Risk
RS1950250678
Likely pathogenic
Uveal coloboma-cleft lip and palate-intellectual disability, Uveal coloboma-cleft lip and palate-intellectual disability
Health Risk
RS2135086778
Pathogenic
Uveal coloboma-cleft lip and palate-intellectual disability, Uveal coloboma-cleft lip and palate-intellectual disability
Health Risk
RS587777249
Pathogenic
Congenital ocular coloboma, Congenital ocular coloboma
Health Risk
RS587777250
Pathogenic
Uveal coloboma-cleft lip and palate-intellectual disability, Uveal coloboma-cleft lip and palate-intellectual disability
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS777581023 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1591100766 | Health Risk | Likely pathogenic | Multiple myeloma, Multiple myeloma |
| RS1950250678 | Health Risk | Likely pathogenic | Uveal coloboma-cleft lip and palate-intellectual disability, Uveal coloboma-cleft lip and palate-intellectual disability |
| RS2135086778 | Health Risk | Pathogenic | Uveal coloboma-cleft lip and palate-intellectual disability, Uveal coloboma-cleft lip and palate-intellectual disability |
| RS587777249 | Health Risk | Pathogenic | Congenital ocular coloboma, Congenital ocular coloboma |
| RS587777250 | Health Risk | Pathogenic | Uveal coloboma-cleft lip and palate-intellectual disability, Uveal coloboma-cleft lip and palate-intellectual disability |