CRYBG2
Chr 1crystallin beta-gamma domain containing 2
Also known as: AIM1L
CRYBG2 encodes a protein predicted to bind carbohydrates, though its specific physiological function remains unclear. The gene shows minimal constraint against loss-of-function variants (pLI near 0, LOEUF 0.793), suggesting that complete loss of function may be tolerated. Currently, no established human genetic diseases have been definitively linked to CRYBG2 mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
346 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 5 | 0 | 5 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 266 | 6 | 0 | 272 |
Likely Benign | 0 | 25 | 0 | 13 | 38 |
Benign | 0 | 1 | 0 | 0 | 1 |
Conflicting | — | 3 | |||
| Total | 0 | 292 | 11 | 13 | 319 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CRYBG2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools