DEAF1

DEAF1 transcription factor

Summary

This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Known Variants637 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1858390924	11:644,545	G/A	—	uncertain significance
rs774798427	11:644,556	G/A	—	likely benign
rs2494212282	11:644,557	G/T	—	uncertain significance
rs148729216	11:644,561	C/T	—	likely benign
rs2133262007	11:644,562	C/T	—	likely benign
rs111377617	11:644,565	C/T	—	likely benign
rs79183202	11:644,568	C/G	—	benign
rs760200310	11:644,573	C/T	—	uncertain significance
rs766292709	11:644,574	G/A	—	likely benign
rs1448400915	11:644,583	C/T	—	likely benign
rs532671271	11:644,585	C/T	—	uncertain significance
rs2494212480	11:644,586	G/A	—	likely benign
rs1053683350	11:644,588	G/A	—	uncertain significance
rs765017164	11:644,594	C/T	—	uncertain significance
rs142320326	11:644,595	G/C	—	uncertain significance
rs1456474946	11:644,596	T/C	—	uncertain significance
rs2133262164	11:644,600	C/T	—	uncertain significance
rs757439651	11:644,603	G/A	—	uncertain significance
rs2133262184	11:644,605	A/T	—	uncertain significance
rs1472386316	11:644,606	C/G	—	uncertain significance
rs200505316	11:644,607	G/T	—	likely benign
rs111947578	11:644,608	G/C	—	conflicting classifications of pathogenicity
rs34114147	11:644,614	G/C	—	benign
rs748500387	11:644,621	A/C	—	uncertain significance
rs771661969	11:644,627	C/T	—	uncertain significance
rs145256931	11:644,628	G/A	—	likely benign
rs760160645	11:644,632	A/G	—	uncertain significance
rs770483499	11:644,633	T/C	—	uncertain significance
rs776049891	11:644,637	C/G	—	uncertain significance
rs759498621	11:644,639	G/A	—	uncertain significance
rs2494212890	11:644,645	C/A	—	uncertain significance
rs767702509	11:644,652	G/C	—	uncertain significance
rs1473101150	11:644,657	G/A	—	uncertain significance
rs2494212970	11:644,658	G/A	—	likely benign
rs1858398124	11:644,661	G/T	—	likely benign
rs199717663	11:644,665	G/A	—	likely benign
rs201859545	11:644,673	C/T	—	likely benign
rs756233061	11:644,674	C/T	—	likely benign
rs569185723	11:645,465	C/T	—	—
rs75163677	11:650,836	G/A	intron variant	—
rs375035806	11:653,944	G/C	—	likely benign
rs758760503	11:653,951	G/C	—	likely benign
rs1858918446	11:653,953	G/A	—	likely benign
rs747284008	11:653,957	C/A	—	uncertain significance
rs1465236398	11:653,959	T/G	—	uncertain significance
rs552504630	11:653,966	C/T	—	uncertain significance
rs147630756	11:653,967	G/A	—	uncertain significance
rs10615	11:653,968	T/C	—	benign
rs531423982	11:653,978	G/A	—	uncertain significance
rs2494258255	11:653,981	G/A	—	uncertain significance
rs920042217	11:653,982	A/T	—	uncertain significance
rs1858920244	11:653,983	G/C	—	uncertain significance
rs930898406	11:653,990	T/C	—	uncertain significance
rs1858920712	11:653,992	G/A	—	likely benign
rs144564572	11:654,007	G/A	—	benign
rs1057520182	11:654,011	C/T	—	uncertain significance
rs568091526	11:654,015	C/T	—	uncertain significance
rs1379218706	11:654,016	G/A	—	likely benign
rs1391894786	11:654,019	C/G	—	uncertain significance
rs1189473860	11:654,021	T/C	—	uncertain significance
rs1858922112	11:654,025	C/G	—	uncertain significance
rs193920740	11:654,029	C/T	—	uncertain significance
rs368021470	11:654,030	G/A	—	uncertain significance
rs2133290047	11:654,032	C/A	—	uncertain significance
rs776979045	11:654,033	C/T	—	uncertain significance
rs533766653	11:654,034	G/A	—	likely benign
rs765778708	11:654,037	G/A	—	likely benign
rs10902188	11:654,043	G/A	—	benign
rs2494259070	11:654,051	G/T	—	uncertain significance
rs1319038934	11:654,054	G/A	—	uncertain significance
rs1589975042	11:654,055	C/T	—	likely benign
rs751991928	11:654,059	A/G	—	likely benign
rs2494259258	11:654,060	A/G	—	likely benign
rs7112962	11:654,091	G/A	—	benign
rs7951023	11:654,511	G/A	—	benign
rs149498490	11:666,496	G/A	splice region variant	—
rs11246258	11:674,454	G/T	—	benign
rs6597997	11:674,458	A/G	—	benign
rs6597996	11:674,499	G/A	—	benign
rs1257504426	11:674,521	T/A	—	likely benign
rs374116028	11:674,526	C/T	—	likely benign
rs1206512447	11:674,528	A/G	—	likely benign
rs370559702	11:674,531	G/A	—	uncertain significance
rs1859969280	11:674,533	T/C	—	uncertain significance
rs2494378255	11:674,535	C/T	—	likely pathogenic
rs1475326043	11:674,543	C/T	—	uncertain significance
rs1564939939	11:674,544	G/A	—	uncertain significance
rs576805766	11:674,546	T/A	—	uncertain significance
rs2494378405	11:674,549	G/A	—	uncertain significance
rs762338624	11:674,550	C/T	—	uncertain significance
rs34559852	11:674,551	G/A	—	benign
rs746106689	11:674,557	G/A	—	likely benign
rs1483440239	11:674,565	T/C	—	uncertain significance
rs897598221	11:674,569	C/G	—	uncertain significance
rs2494378579	11:674,571	G/A	—	likely pathogenic
rs201251172	11:674,582	G/C	—	uncertain significance
rs778313819	11:674,583	C/T	—	uncertain significance
rs752205049	11:674,588	C/T	—	uncertain significance
rs949860707	11:674,589	G/A	—	pathogenic
rs2494378725	11:674,591	T/A	—	uncertain significance

Showing 100 of 637 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.