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 27 through 27 in Melbourne, Australia

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Latest Seminars

Decoding the TP53 mutational landscape: CRISPR perspectives on functional diversity and therapeutic interventions

3 March 2026.

Decoding the TP53 mutational landscape: CRISPR perspectives on functional diversity and therapeutic interventions Julianne Funk is a postdoctoral researcher at the Institute of Molecular Oncology at Marburg University. Her research focuses on functional genomics of the tumor suppressor gene TP53, with a particular emphasis on CRISPR-based saturation genome editing to systematically characterize the effects of cancer-associated variants. Her work aims to improve clinical variant interpretation by linking large-scale functional data with tumor genomics.

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Comprehensive mutational characterization of variants within the calcium-binding STIM1 cEF-hand

3 March 2026.

Nisha Kamath obtained her Ph.D. in Pathology/Immunology from Case Western Reserve University under the mentorship of Dr. Kenneth Matreyek. Her thesis project involved using deep mutational scanning and targeted phenotypic assays to understand how variants within the calcium-binding STIM1 cEF-hand domain affect its structure and function. She is currently pursuing a short-term postdoc within the same lab, applying phenotypic assays she developed during her doctoral training to understand the effect of protein variants on genes related to epilepsy.

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