ATMIN
Chr 16ATM interactor
The ATMIN protein is a transcription factor that regulates ATM kinase activity and promotes DNA damage response through RAD51 foci formation and DYNLL1 gene activation. The gene is extremely intolerant to loss-of-function variants (pLI near 1.0), suggesting that mutations would likely cause severe developmental or neurological phenotypes, though specific disease associations have not yet been established in the provided data. The high constraint score indicates that pathogenic variants in this gene would be expected to have significant clinical consequences.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ATMIN · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools