ERCC2 K751Q

CI-VAR-00002175Explore in graph →p.Lys751GlnNM_000400.4:c.2251A>CClinVar 134105 CIViC 264 rs13181

Curated evidence

Evidence by cancer (2 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–2 of 2 evidence items across 2 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Lung Non-Small Cell Carcinoma1
ERCC2 K751Q	Carboplatin + PaclitaxelCombination	Predictive	B	Supports Sensitivity Response	3	accepted	EID677 The ERCC2 K751Q variant is significantly correlated with increased response to paclitaxel and carboplatin therapies in non small cell lung cancer (NSCLC). The researchers utilized data from three prev… (full text at CIViC) PMID 19470925 · Gandara et al., 2009 · Open in CIViC	civic
Osteosarcoma1
ERCC2 K751Q	Cisplatin	Predictive	B	Supports Resistance	4	accepted	EID676 The ERCC2 K751Q variant was significantly correlated with a lower response to cisplatin chemotherapy in osteosarcoma patients and shorter event-free survival. 91 osteosarcoma patients with a median ag…

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
134105	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive; Cerebrooculofacioskeletal syndrome 2	germline	12	Feb 04, 2026	clinvar