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Loss-of-Function Variant

Definition
AI-generated

A loss-of-function variant is a variant predicted to severely reduce or abolish the function of a gene product.

Topics
Core genetics
Related
Frameshift Variant Nonsense Variant Splice-Site Variant

Why it matters in GWAS

Loss-of-function variants are often enriched for large biological effects and are a common focus of rare-variant association and gene-based analyses.

Example usage

"A replication step checks whether Loss-of-Function Variant assumptions remain stable across cohorts."

Frameshift Variant Nonsense Variant Splice-Site Variant Variant Annotation
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Karczewski KJ, et al. (2020). The mutational constraint spectrum quantified from variation in 141,456 humans. Nature.
← Loss Function Loss of heterozygosity (LOH) →

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