NET1
Chr 10neuroepithelial cell transforming 1
Also known as: ARHGEF8, NET1A
This gene encodes a guanine nucleotide exchange factor that activates RhoA GTPase by catalyzing the exchange of GDP for GTP and may function in DNA damage repair after ionizing radiation. NET1 is tolerant to loss-of-function variants (pLI near 0, LOEUF 0.77), but pathogenic variants have not been established to cause human disease. Currently, there are no well-defined clinical phenotypes or inheritance patterns associated with NET1 mutations in pediatric patients.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NET1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools