rs975947951
This variant is located in the WAC gene.
▶ClinVar annotation
DeSanto-Shinawi syndrome due to WAC point mutation; Nonpapillary renal cell carcinoma; Papillary renal cell carcinoma type 1
View on ClinVar →About WAC
The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
View all WAC variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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