BANF2
Chr 20BANF family member 2
Also known as: BAF-L, BAF2, BAFL, C20orf179
Enables identical protein binding activity. Predicted to be involved in chromosome organization. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
ResearchGenerating clinical summary…
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.63LOEUF
pLI 0.014
Z-score 0.62
OE 0.68 (0.31–1.63)
Highly tolerant — LoF variants common in population
Missense Constraint?
0.42Z-score
OE missense 0.84 (0.66–1.08)
44 obs / 52.6 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.68 (0.31–1.63)
0≤0.351.4
Missense OE?0.84 (0.66–1.08)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 3 / 4.4Missense obs/exp: 44 / 52.6Syn Z: -0.48
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BANF2 · 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