Varaico: Literature-Extracted Genetic Variants

Gene:GLYAT
Variant:p.M272T
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GLYAT

NM_201648.3:p.M272T

Associated Papers

Functional Characterisation of Three Glycine N-Acyltransferase Variants and the Effect on Glycine Conjugation to Benzoyl-CoA.

Rohwer JM et al.

International Journal of Molecular Sciences, 2021

33803916 (PubMed )
Supplement: ijms-22-03129-s001.zip › Supplementary_files › Suppl_Table_1._gnomAD_v2.1.1_ENST00000344743_2020_09_08_13_34_13_edited.xlsx › gnomAD_v2.1.1_ENST00000344743_2

Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Harmancı AS et al.

Nature Communications, 2017

28195122 (PubMed )
Supplement: ncomms14433-s3.xlsx › Table_S2D

Conservation of the coding regions of the glycine N-acyltransferase gene further suggests that glycine conjugation is an essential detoxification pathway.

van der Sluis R et al.

Gene, 2015

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 121.83

CanDrA: cancer-specific driver missense mutation annotation with optimized features.

Mao Y et al.

Plos One, 2013

24205039 (PubMed )
Supplement: pone.0077945.s001.xls › Table_S4
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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."