Varaico: Literature-Extracted Genetic Variants

Gene:GNMT
Variant:p.L49P
Back to variants list

GNMT

NM_018960.6:p.L49P

Associated Papers

Hypermethioninemias of genetic and non-genetic origin: A review.

Mudd SH

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2011

Polymorphisms and disease: hotspots of inactivation in methyltransferases.

Rutherford K et al.

Trends in Biochemical Sciences, 2010

Inherited disorders in the conversion of methionine to homocysteine.

Barić I

Journal of Inherited Metabolic Disease, 2009

Destabilization of human glycine N-methyltransferase by H176N mutation.

Luka Z et al.

Protein Science : a Publication of the Protein Society, 2007

Effect of naturally occurring mutations in human glycine N-methyltransferase on activity and conformation.

Luka Z et al.

Biochemical and Biophysical Research Communications, 2003

Catalytic mechanism of glycine N-methyltransferase.

Takata Y et al.

Biochemistry, 2003

Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism.

Luka Z et al.

Human Genetics, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."