G6PD deficiency: genes and variants
G6PD deficiency is linked to 1 analyzed protein (G6PD). 11 DNA variants are known to cause it; 4 more are uncertain, and 1 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to G6PD deficiency
G6PD: Glucose-6-phosphate 1-dehydrogenase
It generates NADPH through the pentose-phosphate pathway, providing red blood cells with the reducing power needed to withstand oxidative stress. Deficiency can trigger neonatal jaundice or acute hemolytic anemia after infections, fava beans, or oxidant drugs.
11 disease-causing and 4 uncertain variants in G6PD are linked to G6PD deficiency.
Known disease-causing variants in G6PD deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| G6PD R227W | 227 | Disease-causing (★★) | |
| G6PD P50S | 50 | Disease-causing (★★) | |
| G6PD R198H | 198 | Disease-causing (★★) | |
| G6PD P353S | 353 | Disease-causing (★★) | |
| G6PD R459P | 459 | Disease-causing (★★) | |
| G6PD V68M | 68 | Disease-causing (★★) | |
| G6PD F173L | 173 | Disease-causing (★★) | |
| G6PD R459G | 459 | Disease-causing (★★) | |
| G6PD R463S | 463 | Disease-causing (★★) | |
| G6PD R227L | 227 | Disease-causing | |
| G6PD R257L | 257 | Disease-causing |
Uncertain variants in G6PD deficiency that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| G6PD R227Q | 227 | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; R227W at the same position is pathogenic; REVEL 0.869 |
Same protein, different disease
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency is also caused by G6PD variants; they fall mostly in different places as the G6PD deficiency variants (182 disease-causing).
- Malaria is also caused by G6PD variants; they fall mostly in different places as the G6PD deficiency variants (26 disease-causing).
Diseases related to G6PD deficiency
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency, also linked to G6PD
- Malaria, also linked to G6PD
Frequently asked questions
Which genes are linked to G6PD deficiency?
In CATVariant, G6PD deficiency is linked to 1 analyzed protein: G6PD (Glucose-6-phosphate 1-dehydrogenase).
How many genetic variants are linked to G6PD deficiency?
32 variants: 11 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.
Which uncertain variants in G6PD deficiency look disease-causing?
1 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example G6PD R227Q. These are leads for expert review, not diagnoses.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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