DENND6B
Chr 22DENN domain containing 6B
Also known as: AFI1B, FAM116B
Enables guanyl-nucleotide exchange factor activity. Predicted to be located in cytosol. Predicted to be active in recycling endosome. [provided by Alliance of Genome Resources, Jul 2025]
ResearchGenerating clinical summary…
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.83LOEUF
pLI 0.000
Z-score 2.32
OE 0.57 (0.39–0.83)
Typical tolerance to LoF variation
Missense Constraint?
0.86Z-score
OE missense 0.87 (0.78–0.95)
280 obs / 323.7 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.57 (0.39–0.83)
0≤0.351.4
Missense OE?0.87 (0.78–0.95)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 19 / 33.5Missense obs/exp: 280 / 323.7Syn Z: -0.02
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DENND6B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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 →External Resources
Links to major genomics databases and tools