Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.Y165C
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GPR50

NM_004224.3:p.Y165C

Associated Papers

Single molecule glycosylase studies with engineered 8-oxoguanine DNA damage sites show functional defects of a MUTYH polyposis variant.

Nelson SR et al.

Nucleic Acids Research, 2019

Structure-Activity Relationships Reveal Key Features of 8-Oxoguanine: A Mismatch Detection by the MutY Glycosylase.

Manlove AH et al.

Acs Chemical Biology, 2017

Reprint of: gene susceptibility to oxidative damage: from single nucleotide polymorphisms to function.

Simonelli V et al.

Mutation Research, 2012

Gene susceptibility to oxidative damage: from single nucleotide polymorphisms to function.

Simonelli V et al.

Mutation Research, 2012

Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.

Kundu S et al.

Dna Repair, 2009

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

Ali M et al.

Gastroenterology, 2008

Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas.

Gismondi V et al.

International Journal of Cancer, 2004

Site-directed mutagenesis at the Exo III motif of phi 29 DNA polymerase; overlapping structural domains for the 3'-5' exonuclease and strand-displacement activities.

Soengas MS et al.

The Embo Journal, 1992

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."