LMAN1

lectin, mannose binding 1

Summary

The protein encoded by this gene is a membrane mannose-specific lectin that cycles between the endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment, and cis-Golgi, functioning as a cargo receptor for glycoprotein transport. The protein has an N-terminal signal sequence, a calcium-dependent and pH-sensitive carbohydrate recognition domain, a stalk region that functions in oligomerization, a transmembrane domain, and a short cytoplasmic domain required for organelle targeting. Allelic variants of this gene are associated with the autosomal recessive disorder combined factor V-factor VIII deficiency. [provided by RefSeq, Jul 2015]

Known Variants151 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3760558	18:56,995,218	A/T	—	benign
rs4806	18:56,995,396	A/G	—	benign
rs561819154	18:56,995,402	G/A	—	uncertain significance
rs143943495	18:56,995,432	C/T	—	uncertain significance
rs1263821261	18:56,995,655	C/G	—	uncertain significance
rs886054030	18:56,995,675	C/T	—	uncertain significance
rs769626957	18:56,995,688	A/G	—	uncertain significance
rs886054031	18:56,995,723	C/A	—	uncertain significance
rs907209594	18:56,995,784	A/G	—	uncertain significance
rs34753206	18:56,995,920	G/T	—	benign
rs34679996	18:56,995,938	T/C	—	benign
rs41522247	18:56,995,966	T/C	—	uncertain significance
rs886054032	18:56,996,066	T/A	—	uncertain significance
rs7236294	18:56,996,108	T/C	—	benign
rs41370447	18:56,996,141	T/C	—	benign
rs765984474	18:56,996,226	G/A	—	uncertain significance
rs7239187	18:56,996,262	G/C	—	benign
rs191555835	18:56,996,281	T/C	—	uncertain significance
rs140144803	18:56,996,304	T/G	—	uncertain significance
rs886054033	18:56,996,337	G/A	—	uncertain significance
rs886054034	18:56,996,355	A/C	—	uncertain significance
rs74735102	18:56,996,404	A/G	—	likely benign
rs893452939	18:56,996,463	T/C	—	uncertain significance
rs151128517	18:56,996,503	C/A	—	benign
rs1043334	18:56,996,526	T/G	—	benign
rs767155286	18:56,996,694	T/C	—	uncertain significance
rs543483287	18:56,996,709	T/C	—	uncertain significance
rs140930139	18:56,996,760	G/A	—	uncertain significance
rs2070734881	18:56,996,769	G/C	—	uncertain significance
rs529247031	18:56,996,832	T/C	—	benign
rs566011013	18:56,996,935	A/C	—	uncertain significance
rs779423308	18:56,996,993	G/C	—	uncertain significance
rs886054036	18:56,997,020	T/C	—	uncertain significance
rs1264494097	18:56,997,025	G/A	—	uncertain significance
rs762134361	18:56,997,027	T/C	—	uncertain significance
rs186096990	18:56,997,054	T/C	—	uncertain significance
rs770166340	18:56,997,157	G/A	—	uncertain significance
rs2070737289	18:56,997,161	T/C	—	uncertain significance
rs149781610	18:56,997,386	G/A	—	uncertain significance
rs41331148	18:56,997,465	A/C	—	likely benign
rs534664183	18:56,997,531	T/C	—	uncertain significance
rs915077070	18:56,997,562	A/T	—	uncertain significance
rs182108487	18:56,997,572	A/G	—	uncertain significance
rs185861958	18:56,997,673	A/G	—	uncertain significance
rs541441878	18:56,997,754	A/G	—	uncertain significance
rs755899010	18:56,997,833	A/G	—	uncertain significance
rs117480907	18:56,997,835	G/A	—	benign
rs1169482714	18:56,997,845	T/C	—	uncertain significance
rs886054037	18:56,997,901	A/C	—	uncertain significance
rs140370262	18:56,997,909	G/A	—	uncertain significance
rs1005400095	18:56,998,006	T/C	—	uncertain significance
rs182963083	18:56,998,115	C/T	—	uncertain significance
rs764761931	18:56,998,140	T/A	—	uncertain significance
rs41332251	18:56,998,161	T/C	—	likely benign
rs41355245	18:56,998,268	C/T	—	uncertain significance
rs148071519	18:56,998,277	C/T	—	uncertain significance
rs2298713	18:56,998,304	A/C	—	uncertain significance
rs2511505478	18:56,998,330	A/T	—	uncertain significance
rs1010921896	18:56,998,331	G/T	—	uncertain significance
rs759495490	18:56,998,656	A/G	—	uncertain significance
rs750578344	18:56,998,678	C/T	—	uncertain significance
rs41499255	18:56,998,685	C/T	—	benign
rs530806945	18:56,998,708	G/A	—	uncertain significance
rs748522800	18:56,998,712	C/T	—	uncertain significance
rs770116653	18:56,998,734	G/A	—	uncertain significance
rs140260039	18:56,998,735	G/A	—	uncertain significance
rs149932943	18:56,998,754	C/T	—	conflicting classifications of pathogenicity
rs750667779	18:56,998,755	G/C	—	uncertain significance
rs12959578	18:56,998,901	C/T	—	benign
rs34912074	18:57,000,041	G/A	—	benign
rs7238054	18:57,000,274	T/C	—	benign
rs2298712	18:57,000,303	A/G	—	benign
rs2511506641	18:57,000,324	A/G	—	uncertain significance
rs869312033	18:57,000,341	—	—	pathogenic
rs147071939	18:57,000,378	T/C	—	uncertain significance
rs199557121	18:57,000,387	A/G	—	uncertain significance
rs377229331	18:57,000,457	C/T	—	uncertain significance
rs2298711	18:57,000,469	T/A	—	benign
rs200829791	18:57,000,480	A/G	—	conflicting classifications of pathogenicity
rs10515978	18:57,005,655	C/T	—	benign
rs35746038	18:57,005,739	T/A	—	benign
rs368666637	18:57,005,807	C/T	—	uncertain significance
rs374176132	18:57,005,831	A/G	—	conflicting classifications of pathogenicity
rs869312031	18:57,005,990	A/G	—	pathogenic
rs185875271	18:57,006,091	C/A	—	uncertain significance
rs368836543	18:57,006,144	G/C	—	uncertain significance
rs764930025	18:57,006,177	T/G	—	uncertain significance
rs61733371	18:57,006,184	C/T	—	benign
rs1259231401	18:57,013,160	C/T	—	uncertain significance
rs199918904	18:57,013,161	T/A	—	uncertain significance
rs145829103	18:57,013,170	A/G	—	likely benign
rs183873209	18:57,013,202	T/A	—	likely pathogenic
rs965324635	18:57,013,218	A/C	—	uncertain significance
rs2511512259	18:57,013,229	A/T	—	uncertain significance
rs377676111	18:57,013,260	C/T	—	uncertain significance
rs1284380198	18:57,013,269	T/G	—	uncertain significance
rs202115197	18:57,013,274	C/T	—	uncertain significance
rs746406489	18:57,013,277	G/C	—	uncertain significance
rs41483048	18:57,013,482	G/A	—	benign
rs34090830	18:57,013,609	T/C	—	benign

Showing 100 of 151 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.