Varaico: Literature-Extracted Genetic Variants

Gene:GCAT
Variant:p.G375R

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.G375R
c.1123G>C
Surrounding Variants
1 paper
NM_014291.4
p.G375R
c.1123G>A
1 paper
NM_014291.4
p.I374M
c.1122C>G
1 paper
NM_014291.4
p.I374F
c.1120A>T
1 paper
NM_014291.4
p.Y378Y
c.1134C>T
1 paper
NM_014291.4
p.G370Splc
c.1109-1G>A
1 paper
NM_014291.4
p.R387G
c.1159C>G
2 papers
NM_014291.4
p.R387W
c.1159C>T
1 paper
NM_014291.4
p.E398K
c.1192G>A
1 paper
NM_014291.4
p.V409M
c.1225G>A
1 paper
NM_014291.4
p.R413G
c.1237C>G
3 papers
NM_014291.4
p.R413*
c.1237C>T
1 paper
NM_014291.4
p.R413Q
c.1238G>A
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