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

A comparison of somatic mutational spectra in healthy study populations from Russia, Sweden and USA.

Noori P et al.

Carcinogenesis, 2005

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

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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."