AVIL

Chr 12AR

advillin

Also known as: ADVIL, DOC6, NPHS21, p92

NCBI Gene: 10677ENSG00000135407UniProt: O75366OMIM: 613397

The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Nephrotic syndrome, type 21MIM #618594
AR

Clinical highlights

Gene-disease validity (ClinGen)
nephrotic syndrome, type 21 · ARLimitednot for standalone diagnostic reporting
0
Active trials
17
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.78
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.78LOEUF
pLI 0.000
Z-score 2.84
OE 0.57 (0.42–0.78)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.47Z-score
OE missense 0.94 (0.87–1.02)
436 obs / 464.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.57 (0.42–0.78)
0≤0.351.4
Missense OE?0.94 (0.87–1.02)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 29 / 50.8Missense obs/exp: 436 / 464.4Syn Z: 0.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AVIL · 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