Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.C206Y
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HPRT1

NM_000194.3:p.C206Y

Associated Papers

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations

Novel hypoxanthine guanine phosphoribosyltransferase gene mutations in Saudi Arabian hyperuricemia patients.

Alanazi M et al.

Biomed Research International, 2014

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

Noori P et al.

Carcinogenesis, 2005

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

Duan J et al.

Human Mutation, 2004

Screening for molecular pathologies in Lesch-Nyhan syndrome.

Boyd M et al.

Human Mutation, 1993

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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."