RTBDN

retbindin

Summary

This gene was first identified in a study of human eye tissues. The protein encoded by this gene is preferentially expressed in the retina and may play a role in binding retinoids and other carotenoids as it shares homology with riboflavin binding proteins. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]

Known Variants25 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs145740526	19:12,936,581	C/G	—	uncertain significance
rs1969269718	19:12,936,644	A/C	—	uncertain significance
rs148952767	19:12,936,693	C/T	missense variant	—
rs147048498	19:12,936,701	G/A	—	uncertain significance
rs537117488	19:12,936,735	C/G	—	uncertain significance
rs1433408900	19:12,937,627	T/C	—	uncertain significance
rs2512491169	19:12,937,636	G/A	—	uncertain significance
rs759082052	19:12,937,650	G/T	—	uncertain significance
rs184012091	19:12,937,665	T/C	—	uncertain significance
rs758739131	19:12,937,677	T/C	—	uncertain significance
rs2512496746	19:12,939,483	A/G	—	uncertain significance
rs200632219	19:12,939,507	T/C	—	uncertain significance
rs1311431398	19:12,939,511	G/A	—	uncertain significance
rs147174126	19:12,939,525	C/T	missense variant	—
rs371681511	19:12,939,526	G/A	—	uncertain significance
rs1969425738	19:12,939,549	G/A	—	uncertain significance
rs2512497211	19:12,939,565	C/G	—	uncertain significance
rs550909877	19:12,939,746	A/C	—	uncertain significance
rs1280134789	19:12,940,639	T/A	—	uncertain significance
rs772117060	19:12,940,693	A/T	—	uncertain significance
rs775522501	19:12,940,699	C/T	—	likely benign
rs7246112	19:12,940,737	G/A	—	benign
rs146588835	19:12,940,782	C/A	—	uncertain significance
rs1969700549	19:12,945,603	A/G	—	uncertain significance
rs762208382	19:12,945,646	T/C	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.