GAS1
Chr 9growth arrest specific 1
The GAS1 protein functions as a growth suppressor that blocks cell cycle entry into S phase and prevents cycling of normal and transformed cells. Mutations in GAS1 cause autosomal recessive holoprosencephaly, likely through loss of this growth suppressive function. The gene shows constraint against loss-of-function variants (pLI 0.82, LOEUF 0.53), consistent with pathogenic variants causing recessive disease through loss of protein function.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GAS1 · 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