BICRAL

Chr 6

BICRA like chromatin remodeling complex associated protein

Also known as: GLTSCR1L, KIAA0240, SMARCK2

NCBI Gene: 23506ENSG00000112624UniProt: Q6AI39

Predicted to be involved in positive regulation of DNA-templated transcription. Part of SWI/SNF 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.
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.07
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.07LOEUF
pLI 1.000
Z-score 5.99
OE 0.00 (0.00–0.07)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
1.97Z-score
OE missense 0.77 (0.71–0.83)
446 obs / 579.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.07)
0≤0.351.4
Missense OE?0.77 (0.71–0.83)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 0 / 41.7Missense obs/exp: 446 / 579.6Syn Z: 0.29

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BICRAL · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients