rs754227465
This variant is located in the RIMS2 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout RIMS2
The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017]
View all RIMS2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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