GALM

galactose mutarotase

Summary

This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.[provided by RefSeq, Mar 2009]

Known Variants76 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs10865142	2:38,892,836	T/C	—	benign
rs13399254	2:38,893,068	A/G	—	benign
rs13425086	2:38,893,184	A/G	—	benign
rs1159501195	2:38,893,308	C/T	—	likely benign
rs909022991	2:38,893,311	C/T	—	uncertain significance
rs753623665	2:38,893,316	A/T	—	uncertain significance
rs751172717	2:38,893,325	G/A	—	uncertain significance
rs759116307	2:38,893,332	G/C	—	uncertain significance
rs201350001	2:38,893,338	T/C	—	uncertain significance
rs1664927236	2:38,893,339	G/A	—	likely benign
rs548632923	2:38,893,397	G/T	—	uncertain significance
rs2528533466	2:38,893,416	G/A	—	uncertain significance
rs1263376779	2:38,893,425	C/T	—	uncertain significance
rs34708402	2:38,893,450	G/A	—	benign
rs1664930468	2:38,893,453	G/A	—	likely benign
rs749117259	2:38,893,467	T/C	—	uncertain significance
rs2528533789	2:38,893,477	C/A	—	likely benign
rs3821023	2:38,893,660	A/G	—	benign
rs7590750	2:38,893,677	G/A	—	benign
rs13024840	2:38,895,920	T/A	regulatory region variant	—
rs13011383	2:38,897,074	G/A	intron variant	—
rs12052751	2:38,902,926	T/C	—	benign
rs149949698	2:38,902,954	G/T	—	benign
rs17576472	2:38,903,022	T/A	—	benign
rs1019385068	2:38,903,051	C/G	—	uncertain significance
rs367911059	2:38,903,058	C/A	—	pathogenic
rs764044106	2:38,903,101	G/A	—	uncertain significance
rs115413295	2:38,903,107	C/T	—	pathogenic
rs750244194	2:38,903,108	G/A	—	uncertain significance
rs150286350	2:38,903,118	A/T	—	uncertain significance
rs1255611902	2:38,903,130	G/C	—	uncertain significance
rs114353506	2:38,903,143	G/A	—	uncertain significance
rs750336214	2:38,903,175	C/T	—	likely benign
rs191254505	2:38,903,216	C/T	—	benign
rs13004842	2:38,903,819	C/T	intron variant	—
rs1465655	2:38,906,499	G/A	—	—
rs561652582	2:38,908,465	C/T	—	uncertain significance
rs575533020	2:38,908,466	G/A	—	benign
rs200877275	2:38,908,467	C/T	—	uncertain significance
rs114440198	2:38,908,500	G/A	—	conflicting classifications of pathogenicity
rs772066596	2:38,908,539	G/A	—	uncertain significance
rs11687518	2:38,916,906	C/T	—	benign
rs200292259	2:38,916,968	T/C	—	likely benign
rs6741892	2:38,916,970	A/T	missense variant	benign
rs1277727437	2:38,916,979	G/T	—	pathogenic
rs141134809	2:38,917,004	A/G	—	uncertain significance
rs28473018	2:38,917,163	T/C	—	benign
rs191091823	2:38,917,352	G/C	—	—
rs34875979	2:38,918,646	A/G	intron variant	—
rs7583259	2:38,921,934	C/A	—	—
rs1340901888	2:38,924,120	G/T	—	—
rs2528702335	2:38,956,713	T/G	—	uncertain significance
rs757065320	2:38,956,729	C/T	—	likely benign
rs140688063	2:38,956,738	A/G	—	likely benign
rs779485843	2:38,956,762	C/T	—	likely benign
rs2528702535	2:38,956,763	C/A	—	uncertain significance
rs2528702630	2:38,956,800	T/G	—	uncertain significance
rs2272445	2:38,956,947	A/G	—	benign
rs3097715	2:38,957,055	T/C	—	benign
rs527668111	2:38,958,896	G/T	—	uncertain significance
rs1229797646	2:38,958,899	C/G	—	uncertain significance
rs1034886694	2:38,958,926	C/T	—	uncertain significance
rs545817619	2:38,958,946	G/A	—	likely benign
rs114039092	2:38,958,955	C/T	—	benign
rs1040600127	2:38,958,989	G/C	—	uncertain significance
rs767153310	2:38,959,032	G/A	—	pathogenic
rs73930950	2:38,960,445	A/G	—	benign
rs3097714	2:38,960,491	G/A	—	benign
rs191717863	2:38,960,618	T/C	—	benign
rs116100345	2:38,960,634	G/A	—	uncertain significance
rs1666647263	2:38,960,643	C/T	—	uncertain significance
rs1209653220	2:38,960,650	G/C	—	likely benign
rs575045929	2:38,960,661	G/A	—	benign
rs112628295	2:38,960,676	A/G	—	uncertain significance
rs2528712443	2:38,960,701	G/A	—	likely benign
rs17023056	2:38,960,823	A/G	—	benign

Gene information from NCBI Gene. Variant classifications from ClinVar.