CRYL1

crystallin lambda 1

Summary

The uronate cycle functions as an alternative glucose metabolic pathway, accounting for about 5% of daily glucose catabolism. The product of this gene catalyzes the dehydrogenation of L-gulonate into dehydro-L-gulonate in the uronate cycle. The enzyme requires NAD(H) as a coenzyme, and is inhibited by inorganic phosphate. A similar gene in the rabbit is thought to serve a structural role in the lens of the eye. [provided by RefSeq, Jul 2008]

Known Variants104 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1287429513:20,940,031T/C—benign
rs950917613:20,940,181T/C—benign
rs7343974513:20,940,241C/G—benign
rs1161958013:20,940,330C/T—benign
rs955216013:20,940,333C/G—benign
rs7403626113:20,944,274A/G—benign
rs477001413:20,944,343A/C—benign
rs957985213:20,948,952A/G—benign
rs957985313:20,949,050A/G—benign
rs1708133313:20,954,346C/T—benign
rs799882013:20,958,910T/C—benign
rs798667013:20,959,098T/G—benign
rs7344174013:20,968,819G/A—benign
rs11309004513:20,968,965G/C—benign
rs7344174213:20,969,006C/A—benign
rs231386413:20,973,586A/G—benign
rs6777436013:20,973,885C/A—benign
rs209467413:20,973,915T/C—benign
rs77417970213:20,978,282C/G—uncertain significance
rs463841813:20,978,504C/T—benign
rs373703713:20,978,615G/A—benign
rs373703613:20,978,664T/C—benign
rs250024124113:20,978,811G/A—uncertain significance
rs99954935913:20,978,825A/T—likely benign
rs37027205813:20,978,829T/C—uncertain significance
rs14553054013:20,978,863C/T—uncertain significance
rs733107313:20,979,027G/A—benign
rs381861813:20,979,028C/A—benign
rs649056413:20,979,104G/A—benign
rs74786362313:20,987,469G/A—uncertain significance
rs250025559713:20,987,493C/A—uncertain significance
rs7403631913:20,987,496G/A—uncertain significance
rs140843843613:20,987,508T/C—likely benign
rs11613102013:20,987,663G/A—benign
rs950920613:20,987,728G/A—benign
rs7316083513:20,988,394T/G—benign
rs799616313:20,988,396G/T—benign
rs7943304913:20,988,398T/G—benign
rs6806536313:20,988,632A/G—benign
rs7316083613:20,988,799G/A—benign
rs7344178213:20,993,259G/A—benign
rs649056713:20,993,494A/G—benign
rs11259832813:20,998,203C/T—benign
rs955217213:20,998,437C/G—benign
rs436078913:20,998,620G/A—benign
rs733845513:21,003,202C/G—benign
rs11184883613:21,003,514A/G—benign
rs78055081213:21,006,338A/G—uncertain significance
rs20106558113:21,006,361T/A—uncertain significance
rs20221855013:21,006,362C/A—uncertain significance
rs36943989013:21,006,389G/A—uncertain significance
rs37628995713:21,006,404T/C—uncertain significance
rs798321513:21,006,475T/C—benign
rs798681113:21,013,306A/G—benign
rs955218113:21,013,420G/A—benign
rs6744703913:21,013,670G/A—benign
rs7556527713:21,013,683C/A—benign
rs96083690213:21,013,685C/A—benign
rs116350078313:21,013,687G/A—benign
rs76613282213:21,013,734G/A—uncertain significance
rs77810312013:21,013,760T/C—uncertain significance
rs52992323113:21,013,770C/T—benign
rs57259637813:21,013,832A/G—uncertain significance
rs955218213:21,013,995A/C—benign
rs11332300713:21,014,095C/T—benign
rs11381734113:21,022,946T/C—benign
rs955218913:21,037,218C/A——
rs931559913:21,037,608C/G—benign
rs931560013:21,037,643C/T—benign
rs649058113:21,037,658A/G—benign
rs955219013:21,037,854T/C—benign
rs955219113:21,037,902G/A—benign
rs950649213:21,042,506C/T—benign
rs449597613:21,042,847T/C—benign
rs458940313:21,042,896C/T—benign
rs931561113:21,047,736T/C—benign
rs950649413:21,047,858T/C—benign
rs798933213:21,050,575A/T——
rs957828913:21,051,286C/T——
rs733803313:21,052,496C/T—benign
rs732060613:21,052,521T/C—benign
rs7344595813:21,062,278G/A—benign
rs931562313:21,062,353A/G—benign
rs957987313:21,063,496G/A—benign
rs20103684813:21,063,517G/T—uncertain significance
rs1423613:21,063,524A/G—benign
rs20204030013:21,063,533T/G—benign
rs77506466813:21,063,554A/G—likely benign
rs11527957713:21,063,830C/T—benign
rs955220713:21,067,080A/G—benign
rs931562713:21,067,163C/T—benign
rs457068513:21,067,211A/G—benign
rs955220813:21,067,266T/C—benign
rs950650013:21,067,321C/G—benign
rs955220913:21,067,407T/G—benign
rs441432813:21,086,373G/A—benign
rs798720413:21,086,558T/C—benign
rs713973313:21,086,599G/A—benign
rs11291194613:21,086,659C/G—benign
rs477004913:21,093,604C/A——

Showing 100 of 104 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.