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Details on Person NEIL1 G83D variant is a low frequency polymorphism, estimate...

Class:IdSummation:9628741
_displayNameNEIL1 G83D variant is a low frequency polymorphism, estimate...
_timestamp2018-11-12 20:57:46
created[InstanceEdit:9628739] Orlic-Milacic, Marija, 2018-11-12
literatureReference[LiteratureReference:9606534] Catalytically impaired hMYH and NEIL1 mutant proteins identified in patients with primary sclerosing cholangitis and cholangiocarcinoma
[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
modified[InstanceEdit:9628752] Orlic-Milacic, Marija, 2018-11-12
[InstanceEdit:9628766] Orlic-Milacic, Marija, 2018-11-12
textNEIL1 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). NEIL G83D shows 3-8 fold reduced activity in excising DHU (dihydrouracil) from damaged DNA (Prakash et al. 2014).
(summation)[FailedReaction:9628737] NEIL1 G83D does not cleave DHU [Homo sapiens]
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