rs201520383

This variant is located in the AGAP3 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter

About AGAP3

This gene encodes an essential component of the N-methyl-D-aspartate (NMDA) receptor signaling complex which mediates long-term potentiation in synapses by linking activation of NMDA receptor to alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor trafficking. The encoded protein contains an N-terminal GTPase-like domain, a pleckstrin homology domain, an ArfGAP domain and several C-terminal ankryn repeat domains. [provided by RefSeq, Apr 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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