ANKAR
Chr 2ankyrin and armadillo repeat containing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene — mechanism propensity
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
295 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 | 0 | 0 | 0 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 220 | 0 | 0 | 220 |
Likely Benign | 2 | 9 | 0 | 3 | 14 |
Benign | 0 | 7 | 1 | 5 | 13 |
| Total | 2 | 236 | 1 | 8 | 247 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →28 pathogenic / likely-pathogenic (of 30) ClinVar copy-number / structural variants overlap ANKAR — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →
Protein Context — Lollipop Plot
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
A Clinical Study of Calderasib (MK-1084) With Targeted Therapy and Chemotherapy in People With Colorectal Cancer (MK-1084-012/KANDLELIT-012)
RECRUITINGStudy of Talazoparib With Enzalutamide in Men With DDR Gene Mutated mCSPC
ACTIVE NOT RECRUITINGA Clinical Study of Sacituzumab Tirumotecan (Sac-TMT, MK-2870) in People With Breast Cancer (MK-2870-032)
RECRUITINGRelationship of Peripheral Inflammatory and Neuroprotective Biomarkers With Response to Intermittent Theta Burst Stimulation in Treatment-Resistant Depression
NOT YET RECRUITINGDose Escalation Study of a PD1-LAG3 Bispecific Antibody in Patients With Advanced and/or Metastatic Solid Tumors
ACTIVE NOT RECRUITINGA Study of Metastases Free Survival With Saruparib vs Placebo Added to a Standard RT/ADT in Men With High-risk Prostate Cancer With a BRCA Mutation
RECRUITINGTRIMPACT: Real-World First-Line Atezolizumab Use in Stage IV NSCLC With PD-L1 ≥50%
RECRUITINGOtoferlin Gene-mediated Hearing Loss Natural History Study
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)
RECRUITINGDetermine Effectiveness of Anifrolumab In SYstemic Sclerosis (DAISY)
ACTIVE NOT RECRUITINGStudy of Telisotuzumab Vedotin (ABBV-399) in Participants With Previously Treated c-Met+ Non-Small Cell Lung Cancer
ACTIVE NOT RECRUITINGInvestigation of the Genetic and Environmental Causes of Autism: a Multi-Center Study
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools