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Gain-of-function variant

Definition
AI-generated

Mutation that increases or reprograms activity of a gene product (dominant or neomorph), distinct from simple loss-of-function.

Topics
Core genetics
Related
Loss Of Function Variant Dominant Negative Allele Missense Variant

Why it matters in GWAS

GWAS hits are interpreted through gene structure, regulation, and variant consequence; molecular vocabulary connects association statistics to mechanism.

Example usage

"The methods explicitly include Gain-of-function variant in the end-to-end analysis workflow."

Loss Of Function Variant Dominant Negative Allele Missense Variant
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

  • Griffiths AJF, et al. (2015). An Introduction to Genetic Analysis. W. H. Freeman.
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