Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.G70V
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HPRT1

NM_000194.3:p.G70V

Associated Papers

All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.

Holm LL et al.

Nucleic Acids Research, 2024

38324470 (PubMed )
Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

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."