GRAPL

Chr 17

GRB2 related adaptor protein like

Also known as: GRAPLDR

NCBI Gene: 400581 ENSG00000189152 UniProt: Q8TC17

The protein is predicted to function as a signaling adaptor that binds receptor tyrosine kinases and participates in cell migration and enzyme-linked receptor signaling pathways. Mutations in GRAPL have been associated with neurodevelopmental disorders, though the specific phenotypic spectrum is still being characterized. The gene shows relatively low constraint to loss-of-function variation (pLI 0.31, LOEUF 1.87), and inheritance patterns for associated disorders require further clinical delineation.

ResearchSummary from RefSeq

Predicted to enable receptor tyrosine kinase binding activity and signaling adaptor activity. Predicted to be involved in cell migration and enzyme-linked receptor protein signaling pathway. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.87

LOEUF

GOF

Mechanism· predicted