ATL1, atlastin GTPase 1, 51062

N. diseases: 112; N. variants: 26
Disease: Henoch-Schoenlein Purpura ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119476046
rs119476046
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
CUI: C0034152
Disease:
Henoch-Schoenlein Purpura 		0.010 GeneticVariation BEFREE In addition, we demonstrated that the cellular distribution of atlastin-1:NIPA1 complexes was dramatically altered by HSP-causing mutations, as missense mutations in atlastin-1 (R239C and R495W) and NIPA1 (T45R and G106R) caused protein sequestration in the Golgi complex (GC) and endoplasmic reticulum (ER), respectively. 20816793 2011
dbSNP: rs864622269
rs864622269
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
CUI: C0034152
Disease:
Henoch-Schoenlein Purpura 		0.010 GeneticVariation BEFREE In addition, we demonstrated that the cellular distribution of atlastin-1:NIPA1 complexes was dramatically altered by HSP-causing mutations, as missense mutations in atlastin-1 (R239C and R495W) and NIPA1 (T45R and G106R) caused protein sequestration in the Golgi complex (GC) and endoplasmic reticulum (ER), respectively. 20816793 2011