GRIP1

Chr 12AR

glutamate receptor interacting protein 1

Also known as: FRASRS3, GRIP

NCBI Gene: 23426 ENSG00000155974 UniProt: Q9Y3R0 OMIM: 604597

The encoded protein is a scaffold protein that binds to and mediates trafficking and membrane organization of transmembrane proteins, including controlling AMPA receptor fate and endosomal sorting in neurons. Mutations cause Fraser syndrome 3, inherited in an autosomal recessive pattern. The gene shows significant constraint against loss-of-function variants (LOEUF 0.356), suggesting loss-of-function mutations are poorly tolerated.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the glutamate receptor interacting protein family. The encoded scaffold protein binds to and mediates the trafficking and membrane organization of a number of transmembrane proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Fraser syndrome 3MIM #617667

Clinical highlights

Gene-disease validity (ClinGen)

Fraser syndrome 3 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.36

LOEUF

LOF

Mechanism· G2P