ANKAR
Chr 2ankyrin and armadillo repeat containing
The ANKAR protein is predicted to be located in cellular membranes, though its specific function remains unclear. Mutations in ANKAR cause neurodevelopmental disorders, though the clinical phenotypes and inheritance patterns are not well-defined in current databases. This gene shows tolerance to loss-of-function variants based on population genetics data.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ANKAR · 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
Clinical Study of Fianlimab in Combination With Cemiplimab Versus Pembrolizumab in Adolescent and Adult Patients With Previously Untreated Unresectable Locally Advanced or Metastatic Melanoma
ACTIVE NOT RECRUITINGStudy of Telisotuzumab Vedotin (ABBV-399) in Participants With Previously Treated c-Met+ Non-Small Cell Lung Cancer
ACTIVE NOT RECRUITINGSacituzumab Tirumotecan (MK-2870) Versus Chemotherapy in Previously Treated Advanced or Metastatic Nonsquamous Non-small Cell Lung Cancer (NSCLC) With EGFR Mutations or Other Genomic Alterations (MK-2870-004)
RECRUITINGDetermine Effectiveness of Anifrolumab In SYstemic Sclerosis (DAISY)
ACTIVE NOT RECRUITINGA Study of Bleximenib, Venetoclax and Azacitidine For Treatment of Participants With Newly Diagnosed Acute Myeloid Leukemia (AML)
RECRUITINGTRIMPACT: Real-World First-Line Atezolizumab Use in Stage IV NSCLC With PD-L1 ≥50%
RECRUITINGCACP: Study on Camptodactyly - Arthropathy - Coxa Vara - Pericarditis (CACP) Syndrome
RECRUITINGOtoferlin Gene-mediated Hearing Loss Natural History Study
RECRUITINGStudy of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 Gangliosidosis
ACTIVE NOT RECRUITINGEffect of Hypochlorous Acid-containing Mouthwash on Healing After Impacted Wisdom Tooth Surgery
ENROLLING BY INVITATIONStudy of Talazoparib With Enzalutamide in Men With DDR Gene Mutated mCSPC
ACTIVE NOT RECRUITINGAutoInflammatory Disease Alliance Registry (AIDA)
RECRUITINGNo open access results found
External Resources
Links to major genomics databases and tools