Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.G70R
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HPRT1

NM_000194.3:p.G70R

Associated Papers

Discovering functionally important sites in proteins.

Cagiada M et al.

Nature Communications, 2023

Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population.

Yamada Y et al.

Nucleosides, Nucleotides & Nucleic Acids, 2011

Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.

Yamada Y et al.

Nucleosides, Nucleotides & Nucleic Acids, 2008

[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].

Yamada Y

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2008

Saturation mutagenesis, complement selection, and steady-state kinetic studies illuminate the roles of invariant residues in active site loop I of the hypoxanthine phosphoribosyltransferase from Trypanosoma cruzi.

Butterworth AC et al.

Biochimica Et Biophysica Acta, 2004

Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus.

Duan J et al.

Human Mutation, 2004

The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP.

Eads JC et al.

Cell, 1994

International Commission for Protection Against Environmental Mutagens and Carcinogens. Working paper no. 3. Somatic mutant frequency, mutation rates and mutational spectra in the human population in vivo.

Cole J et al.

Mutation Research, 1994

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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."