Contents

GBA Gene Mutations and Parkinson's Disease Risk

🔬 Protein Info

Gene Symbol	ent-gene-694200ea
Chromosome	1q21
Missense mutations	N370S, L444P, V394L, D409H
Splice-site mutations	IVS2+1, IVS10-1
Recombinant alleles	Complex mutations from gene conversion with GBAP1
Null mutations	Frameshift, nonsense mutations causing complete loss of function
KG Connections	2 knowledge graph edges
Databases	GeneCards UniProt NCBI Gene HPA STRING

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