ERCC1
Chr 19ARERCC excision repair 1, endonuclease non-catalytic subunit
Also known as: COFS4, RAD10, UV20
The protein functions as a non-catalytic component of a structure-specific DNA repair endonuclease that performs 5'-incisions during nucleotide excision repair and is responsible for repairing DNA lesions including UV-induced damage, interstrand crosslinks, and double-strand breaks. Biallelic mutations cause cerebrooculofacioskeletal syndrome 4, a severe autosomal recessive disorder affecting multiple organ systems including the brain, eyes, face, and skeleton. The gene is highly constrained against loss-of-function variants, reflecting its essential role in DNA repair.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
300 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 | 5 | 0 | 6 | 0 | 11 |
Likely Pathogenic | 8 | 0 | 2 | 0 | 10 |
VUS | 1 | 109 | 4 | 0 | 114 |
Likely Benign | 1 | 8 | 42 | 42 | 93 |
Benign | 0 | 4 | 30 | 3 | 37 |
Conflicting | — | 4 | |||
| Total | 15 | 121 | 84 | 45 | 269 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ERCC1 · 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
Testing the Addition of M6620 (VX-970, Berzosertib) to Usual Chemotherapy and Radiation for Head and Neck Cancer
ACTIVE NOT RECRUITINGFirst-line Gemcitabine Plus Cisplatin in Locally Advanced (IIIC Stage) Breast Cancer Patients
ACTIVE NOT RECRUITINGRandomized Trial Comparing Standard of Care Versus Immune- Based Combination in Relapsed Stage III Non-small-cell Lung Cancer (NSCLC) Pretreated With Chemoradiotherapy and Durvalumab
RECRUITINGProspective Cohort Study of Pancreatic Cancer Patients Treated With Proton Beam Therapy
ENROLLING BY INVITATIONExternal Resources
Links to major genomics databases and tools