Varaico: Literature-Extracted Genetic Variants

Gene:GCAT

GCAT

100 papers

RefSeq Summary

The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first ...

Pfam Domains

Aminotran_1_2aa 65–408UCSCAminotransferase class I and II

Gene Aliases

HGNC Name

glycine C-acetyltransferase

HGNC Alias Symbol

KBL

Papers
RefSeq ID
Protein change
DNA change
1–12 of 106 variants
7 papers
NM_014291.4
p.R39C
c.115C>T
3 papers
NM_014291.4
p.R413*
c.1237C>T
2 papers
NM_014291.4
p.W2*
c.5G>A
2 papers
NM_014291.4
p.W13*
c.38G>A
2 papers
NM_014291.4
p.W13*
c.39G>A
2 papers
NM_014291.4
p.I38T
c.113T>C
2 papers
NM_014291.4
p.A87A
c.261A>T
2 papers
NM_014291.4
p.R387W
c.1159C>T
1 paper
NM_014291.4
p.M1I
c.3G>A
1 paper
NM_014291.4
p.W2*
c.6G>A
1 paper
NM_014291.4
p.W7R
c.19T>A
1 paper
NM_014291.4
p.A9A
c.27C>A
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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."