DCAF7
DDB1 and CUL4 associated factor 7
Summary
This gene encodes a protein with multiple WD40 repeats which facilitate protein-protein interactions and thereby enable the assembly of multiprotein complexes. This protein has been shown to function as a scaffold protein for protein complexes involved in kinase signaling. This highly conserved gene is present in eukaryotic plants, fungi, and animals. The ortholog of this gene was first identified in plants as a key regulator of anthocyanin biosynthesis and flower pigmentation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Known Variants7 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs546982068 | 17:61,628,059 | G/A | — | benign |
| rs772876029 | 17:61,628,084 | C/T | — | uncertain significance |
| rs143007748 | 17:61,655,938 | C/T | — | benign |
| rs1301213649 | 17:61,655,939 | G/A | — | uncertain significance |
| rs35367480 | 17:61,657,283 | G/A | — | benign |
| rs2510868383 | 17:61,660,936 | G/A | — | uncertain significance |
| rs181422029 | 17:61,667,851 | C/T | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.