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Details on Person NEIL1 G83D variant is a low frequency polymorphism, estimate...
| Class:Id | Summation:9629147 |
|---|---|
| _displayName | NEIL1 G83D variant is a low frequency polymorphism, estimate... |
| _timestamp | 2018-11-19 15:51:28 |
| created | [InstanceEdit:9629164] Orlic-Milacic, Marija, 2018-11-19 |
| literatureReference | [LiteratureReference:9628747] Genome and cancer single nucleotide polymorphisms of the human NEIL1 DNA glycosylase: activity, structure, and the effect of editing [LiteratureReference:9628760] Human polymorphic variants of the NEIL1 DNA glycosylase [LiteratureReference:9606534] Catalytically impaired hMYH and NEIL1 mutant proteins identified in patients with primary sclerosing cholangitis and cholangiocarcinoma |
| text | NEIL1 G83D variant is a low frequency polymorphism, estimated to occur in ~1% of US population (Roy et al. 2007), and is associated with primary sclerosing cholangitis and cholangiocarcinoma (Forsbring et al. 2009). NEIL1 G83D does not cleave thymine glycol (Tg) from damaged DNA (Prakash et al. 2014). NEIL1 E28del, an in-frame deletion variant of NEIL1 reported in gastric (stomach) cancer, where glutamate at position 28 is deleted, does not cleave Tg from damaged DNA (Shinmura et al. 2008). |
| (summation) | [FailedReaction:9629166] Defective NEIL1 variants do not cleave Tg [Homo sapiens] |
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