Xeroderma pigmentosum, group G: genes and variants
Xeroderma pigmentosum, group G is linked to 1 analyzed protein (ERCC5). 4 DNA variants are known to cause it; 56 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: xeroderma pigmentosum group G
Genes linked to Xeroderma pigmentosum, group G
ERCC5: DNA excision repair protein ERCC-5
It makes one of the two strand incisions required to remove bulky DNA lesions during nucleotide-excision repair and also supports repair-associated transcriptional responses. Biallelic pathogenic variants can cause xeroderma pigmentosum group G, Cockayne syndrome, or combined phenotypes.
4 disease-causing and 56 uncertain variants in ERCC5 are linked to Xeroderma pigmentosum, group G.
Known disease-causing variants in Xeroderma pigmentosum, group G
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ERCC5 A792V | 792 | I-domain | Disease-causing (★★) |
| ERCC5 A28D | 28 | N-domain | Disease-causing |
| ERCC5 L858P | 858 | DNA-binding | Disease-causing |
| ERCC5 W968C | 968 | Disease-causing |
Same protein, different disease
- Xeroderma pigmentosum is also caused by ERCC5 variants; they fall mostly in different places as the Xeroderma pigmentosum, group G variants (4 disease-causing).
Diseases related to Xeroderma pigmentosum, group G
- Ovarian cancer, also linked to ERCC5
- Xeroderma pigmentosum, also linked to ERCC5
- Cerebrooculofacioskeletal syndrome 2, also linked to ERCC5
Frequently asked questions
Which genes are linked to Xeroderma pigmentosum, group G?
In CATVariant, Xeroderma pigmentosum, group G is linked to 1 analyzed protein: ERCC5 (DNA excision repair protein ERCC-5).
How many genetic variants are linked to Xeroderma pigmentosum, group G?
87 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 56 are of uncertain significance or have conflicting reports.
Which uncertain variants in Xeroderma pigmentosum, group G look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
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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