DCAF12

DDB1 and CUL4 associated factor 12

Summary

This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. [provided by RefSeq, Jul 2009]

Known Variants25 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2490562620	9:34,088,364	G/A	—	uncertain significance
rs2490562867	9:34,088,494	T/C	—	uncertain significance
rs767505215	9:34,089,504	T/C	—	uncertain significance
rs139198427	9:34,089,514	T/A	—	uncertain significance
rs2490573414	9:34,093,356	G/A	—	uncertain significance
rs147681004	9:34,096,750	G/A	—	likely benign
rs140076757	9:34,098,452	G/C	—	uncertain significance
rs2490582714	9:34,098,462	T/C	—	uncertain significance
rs2490582756	9:34,098,477	C/T	—	uncertain significance
rs372768992	9:34,098,498	T/C	—	uncertain significance
rs1402337460	9:34,106,480	C/T	—	uncertain significance
rs1444680049	9:34,106,482	T/C	—	uncertain significance
rs140591380	9:34,106,492	C/T	—	uncertain significance
rs879743911	9:34,107,394	T/C	—	uncertain significance
rs2490598442	9:34,107,454	A/C	—	uncertain significance
rs10971921	9:34,111,002	G/A	upstream gene variant	—
rs10971930	9:34,116,083	T/A	—	—
rs759196193	9:34,125,056	G/A	—	uncertain significance
rs777893053	9:34,125,149	C/G	—	uncertain significance
rs1408884377	9:34,125,153	C/G	—	uncertain significance
rs780866460	9:34,125,161	G/C	—	uncertain significance
rs2490627665	9:34,125,239	G/C	—	uncertain significance
rs772841289	9:34,126,354	G/C	—	uncertain significance
rs764337097	9:34,126,377	G/C	—	uncertain significance
rs1314060422	9:34,126,422	C/T	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.