CRYBG3

Chr 3

crystallin beta-gamma domain containing 3

Also known as: DKFZp667G2110, vlAKAP

NCBI Gene: 131544 ENSG00000080200 UniProt: Q68DQ2

CRYBG3 encodes an anchoring protein that mediates subcellular compartmentation of protein kinase A and is predicted to function in lens development and visual perception. The gene shows low constraint to loss-of-function variation. Currently, no well-established human diseases have been definitively linked to CRYBG3 mutations.

ResearchSummary from RefSeq, UniProt

Enables protein kinase A binding activity. Predicted to be involved in lens development in camera-type eye and visual perception. Part of protein-containing complex. [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)

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P/LP submissions

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P/LP missense

0.49

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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