GAS6
Chr 13growth arrest specific 6
Also known as: AXLLG, AXSF
The protein encoded by this gene is a ligand for tyrosine-protein kinase receptors (AXL, TYRO3, and MER) that regulates cell growth, survival, adhesion, and migration processes including endothelial cell survival, natural killer cell development, hepatic regeneration, neuron survival and migration, and platelet activation. Mutations in GAS6 cause autosomal recessive thrombophilia due to protein S deficiency-like syndrome, characterized by increased risk of venous thromboembolism. The gene shows high constraint against loss-of-function variants (LOEUF 0.486), indicating that complete loss of protein function is likely deleterious.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
297 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 112 | 0 | 112 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 111 | 15 | 0 | 126 |
Likely Benign | 0 | 10 | 2 | 2 | 14 |
Benign | 0 | 5 | 1 | 3 | 9 |
| Total | 0 | 126 | 133 | 5 | 264 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GAS6 · 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