CECR2

CECR2 histone acetyl-lysine reader

Summary

This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

Known Variants21 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs5749056	22:17,842,343	C/A	—	—
rs753147811	22:17,844,387	G/C	—	—
rs16982400	22:17,897,544	T/C	upstream gene variant	—
rs372193800	22:17,932,864	C/T	—	—
rs553246842	22:17,976,106	G/T	—	—
rs61745636	22:17,990,875	T/G	—	benign
rs143595262	22:18,003,136	C/T	—	benign
rs200143087	22:18,016,826	G/A	—	likely benign
rs35746048	22:18,018,675	T/C	—	benign
rs184360323	22:18,020,382	A/G	—	benign
rs200166225	22:18,021,876	C/A	—	likely benign
rs41277560	22:18,022,046	T/C	—	benign
rs191800029	22:18,022,060	C/T	—	benign
rs2147031368	22:18,022,113	C/T	—	conflicting classifications of pathogenicity
rs114626178	22:18,022,373	C/T	—	benign
rs768595444	22:18,022,514	C/T	—	likely benign
rs10427665	22:18,027,977	A/G	—	benign
rs182143214	22:18,028,166	T/C	—	benign
rs527746223	22:18,028,639	G/A	—	likely benign
rs146231898	22:18,028,946	G/A	—	benign
rs189586669	22:18,031,749	G/C	—	benign

Gene information from NCBI Gene. Variant classifications from ClinVar.