Varaico: Literature-Extracted Genetic Variants

Gene:GCAT
Variant:p.A23P

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
Selected Variant
1 paper
NM_014291.4
p.A23P
c.67G>C
Surrounding Variants
1 paper
NM_014291.4
p.G29R
c.85G>C
1 paper
NM_014291.4
p.V14L
c.40G>T
2 papers
NM_014291.4
p.W13*
c.39G>A
2 papers
NM_014291.4
p.W13*
c.38G>A
1 paper
NM_014291.4
p.E34_K45delFs
c.100_134del35
1 paper
NM_014291.4
p.E34G
c.101A>G
1 paper
NM_014291.4
p.L11V
c.31C>G
1 paper
NM_014291.4
p.L35L
c.103C>T
1 paper
NM_014291.4
p.A9A
c.27C>A
1 paper
NM_014291.4
p.I38V
c.112A>G
1 paper
NM_014291.4
p.I38F
c.112A>T
1 paper
NM_014291.4
p.I38N
c.113T>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."