ANKAR
Chr 2ankyrin and armadillo repeat containing
Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]
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
276 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 27 | 0 | 27 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 219 | 1 | 0 | 220 |
Likely Benign | 1 | 9 | 2 | 3 | 15 |
Benign | 0 | 7 | 1 | 5 | 13 |
| Total | 1 | 235 | 32 | 8 | 276 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →ANKAR · 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
Determine Effectiveness of Anifrolumab In SYstemic Sclerosis (DAISY)
ACTIVE NOT RECRUITINGAutoInflammatory Disease Alliance Registry (AIDA)
RECRUITINGSaruparib (AZD5305) vs Placebo in Men With Metastatic Castration-Sensitive Prostate Cancer Receiving Physician's Choice New Hormonal Agents
RECRUITINGTRIMPACT: Real-World First-Line Atezolizumab Use in Stage IV NSCLC With PD-L1 ≥50%
RECRUITINGKEYMAKER-U01 Substudy 01J: A Study of Pembrolizumab Plus MK-1084 in Participants With Non-Small Cell Lung Cancer (NSCLC) With Kirsten Rat Sarcoma Viral Oncogene Homolog (KRAS) G12C Mutations (MK-3475-01J/KEYMAKER-U01J)
RECRUITINGA Study of Niraparib in Combination With Abiraterone Acetate and Prednisone Versus Abiraterone Acetate and Prednisone for the Treatment of Participants With Deleterious Germline or Somatic Homologous Recombination Repair (HRR) Gene-Mutated Metastatic Castration-Sensitive Prostate Cancer (mCSPC)
ACTIVE NOT RECRUITINGStudy of Telisotuzumab Vedotin (ABBV-399) in Participants With Previously Treated c-Met+ Non-Small Cell Lung Cancer
ACTIVE NOT RECRUITINGNatural History of Type 1 Interferonopathies: Insights From a European Cohort
RECRUITINGInvestigation of the Genetic and Environmental Causes of Autism: a Multi-Center Study
NOT YET RECRUITINGStudy of Talazoparib With Enzalutamide in Men With DDR Gene Mutated mCSPC
ACTIVE NOT RECRUITINGA Study of Milvexian in Participants After a Recent Acute Coronary Syndrome
ACTIVE NOT RECRUITINGBeamion LUNG-3: A Study to Test Whether Zongertinib Helps People With Surgically Removed, Non-small Cell Lung Cancer With HER2 Mutations Compared With Standard Treatment
RECRUITINGNo open access results found
External Resources
Links to major genomics databases and tools