Varaico: Literature-Extracted Genetic Variants

Gene:GCAT
Variant:p.A72T

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.A72T
c.214G>A
Surrounding Variants
1 paper
NM_014291.4
p.N73D
c.217A>G
1 paper
NM_014291.4
p.F70I
c.208T>A
1 paper
NM_014291.4
p.Y75S
c.224A>C
1 paper
NM_014291.4
p.Y75*
c.225C>A
1 paper
NM_014291.4
p.I67N
c.200T>A
2 papers
NM_014291.4
p.A87A
c.261A>T
1 paper
NM_014291.4
p.A91T
c.271G>A
1 paper
NM_014291.4
p.S100N
c.299G>A
1 paper
NM_014291.4
p.S100T
c.299G>C
1 paper
NM_014291.4
p.S101F
c.302C>T
1 paper
NM_014291.4
p.G62R
c.184G>C
1 paper
NM_014291.4
p.G62C
c.184G>T
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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."