Varaico: Literature-Extracted Genetic Variants

Gene:PACC1
Variant:p.R188H
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PACC1

NM_018252.3:p.R188H

Associated Papers

Exome sequencing in 51 early onset non-familial CRC cases.

Thutkawkorapin J et al.

Molecular Genetics & Genomic Medicine, 2019

30809968 (PubMed )
Supplement: MGG3-7-e605-s002.xlsx › Supp_Table2__Missense_variants_

Arg-188 and Trp-144 are implicated in the binding of urea and acetamide to the active site of the amidase from Pseudomonas aeruginosa.

Tata R et al.

Biochimica Et Biophysica Acta, 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."