BCO1

beta-carotene oxygenase 1

Summary

Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. [provided by RefSeq, Jul 2008]

Known Variants74 total

rsidPosition (GRCh37)AllelesClassClinVar
rs77046892616:81,272,540G/C—uncertain significance
rs5806782316:81,272,628T/A—benign
rs11689748216:81,272,783G/A—benign
rs7869905016:81,279,090A/T—likely benign
rs2837052216:81,279,120T/C—benign
rs77222482516:81,279,121G/A—uncertain significance
rs55401090416:81,279,171C/T—likely benign
rs1164016816:81,279,378C/G—benign
rs1164542216:81,279,434G/A—benign
rs1164654916:81,279,482T/C—benign
rs57699044216:81,282,148G/A——
rs14662741716:81,293,043G/A—benign
rs14921963916:81,293,062A/G—benign
rs7607310616:81,293,207A/G—benign
rs14154724216:81,293,345C/G—uncertain significance
rs74657331516:81,293,383C/A—uncertain significance
rs7773595016:81,293,669G/A—benign
rs19971026216:81,295,743C/G—uncertain significance
rs3568329216:81,295,780A/C—benign
rs156745242516:81,295,842A/G—uncertain significance
rs250754848016:81,295,867G/C—uncertain significance
rs750099616:81,295,902C/T—benign
rs6705494516:81,298,033G/A—benign
rs14781378116:81,298,254C/T—likely benign
rs56815497516:81,298,255G/A—uncertain significance
rs36921448516:81,298,268G/A—likely benign
rs13966792816:81,298,269G/A—likely benign
rs11947805716:81,298,282C/Amissense variantuncertain significance
rs14902978916:81,298,283G/A—likely benign
rs134740666116:81,298,294A/G—uncertain significance
rs37184641616:81,298,306C/T—uncertain significance
rs15114949316:81,298,341G/A—uncertain significance
rs11389483516:81,298,371A/G—uncertain significance
rs7283332016:81,298,537C/G—benign
rs3450006016:81,301,460G/C—benign
rs720289516:81,301,571A/G—likely benign
rs76188229316:81,301,606G/C—uncertain significance
rs14851087916:81,301,689C/T—uncertain significance
rs142508716516:81,301,693G/A—uncertain significance
rs1293492216:81,301,694A/Tmissense variantbenign
rs190694905516:81,301,722C/T—uncertain significance
rs1244633416:81,302,009G/A—benign
rs488929416:81,303,759T/Csplice region variantbenign
rs78140526016:81,303,848G/A—uncertain significance
rs14969739116:81,303,855C/G—uncertain significance
rs14543881616:81,303,870G/A—uncertain significance
rs57012650616:81,303,878G/A—uncertain significance
rs128897752116:81,303,943C/G—uncertain significance
rs118014018016:81,303,975C/T—uncertain significance
rs37219093116:81,304,002T/C—uncertain significance
rs37683807216:81,304,013G/A—uncertain significance
rs2850450816:81,304,069C/T—benign
rs718865016:81,314,381T/C—benign
rs11737210816:81,314,452A/G—likely benign
rs37530167416:81,314,471G/T—uncertain significance
rs750133116:81,314,496C/Tmissense variantbenign
rs78108949316:81,314,501A/G—uncertain significance
rs77905322616:81,314,511C/T—uncertain significance
rs77547798116:81,314,558C/G—uncertain significance
rs380365116:81,318,882A/G—benign
rs1244910816:81,319,438G/A—benign
rs804834216:81,320,830A/G—benign
rs804647716:81,320,887G/A—benign
rs75684444416:81,320,950C/A—likely benign
rs14387630416:81,320,952A/G—uncertain significance
rs75889001516:81,320,969C/A—uncertain significance
rs130696818516:81,320,991G/T—uncertain significance
rs1164759716:81,321,298T/G—benign
rs14323831216:81,323,953G/C—benign
rs77201136716:81,324,042C/T—uncertain significance
rs250764459016:81,324,066C/T—uncertain significance
rs14804902416:81,324,126G/A—benign
rs115897754216:81,324,157A/C—uncertain significance
rs14178125516:81,324,160G/A—conflicting classifications of pathogenicity

Gene information from NCBI Gene. Variant classifications from ClinVar.