Atlas of Variant Effects Alliance:
Precision medicine at nucleotide resolution

Art by Uta Mackensen (CC BY-ND) Image Description: Background: A world map and chromosome idiogram. Foreground: People moving amongst and inspecting larger than life Variant Effect Maps of clinically important genes BRCA1, HMBS, MTHFR and TDP-43.

The vision of the Alliance is to create comprehensive variant effect maps for important regions of human and human pathogen genomes that could ultimately assist in the diagnosis, prognosis and treatment of disease. The goal of our Alliance is to bring together data generators, curators and consumers, along with funders and other stakeholders, to set standards, share tools and develop strategy.

By describing the effects of variants in the genome, the atlas will accelerate and empower biological research, drug discovery and medical practice.

Graphic Credits: kjpargeter Freepik, Sayeh Gorjifard and Uta Mackensen

Join us

The Alliance welcomes individuals from academia, industry, government or other entities anywhere in the world

Variant Effects Seminar Series

In this series, early-career scientists from around the globe share and discuss their research related to interpreting human genetic variation

Mutational Scanning Symposium

8th Annual Mutational Scanning Symposium in Barcelona, Spain

Latest Event

9th Annual Mutational Scanning Symposium 2026

25 March 2026, Melbourne, Australia.

Mutational Scanning Symposium 2026

Event jointly organized by: AVE and St Vincent's Institute of Medical Research

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Latest AVE Mention in the News

MSS 2026: Bryony Thompson Offers Perspective of Clinical Scientist in a Diagnostic Laboratory

26 February 2026.

Thompson is one of the featured presenters at the Ninth Annual Mutational Scanning Symposium, March 25 through 27 in Melbourne, Australia

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Latest Seminars

Scaled multidimensional assays of variant effect for hypertrophic cardiomyopathy

7 April 2026.

Yuta Yamamoto is an Instructor of the Division of Cardiovascular Medicine, Stanford. He completed a postdoc training at the Ashely lab at Stanford. His research focuses on decoding genetic variants associated with hypertrophic cardiomyopathy using scalable functional genomics.

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KBTBD4 Cancer Hotspot Mutations Drive Neomorphic Degradation of HDAC1/2 Corepressor Complexes

7 April 2026.

Olivia Zhang recently obtained her Ph.D. in Chemistry and Chemical Biology from Harvard University in Dr. Brian Liau’s Lab. Her research focused on understanding chemical and genetic mechanisms to regulate the LSD1-HDAC1/2-CoREST (LHC) repressor complex. In particular, she investigated the mechanism of cancer hotspot mutations in the E3 ligase KBTBD4 in promoting the degradation of CoREST. Using deep mutational scanning and a diverse array of biochemical and cell based assays, her work along with extensive collaborations reveal the mutational landscape...more

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