Varaico: Literature-Extracted Genetic Variants

Gene:GCAT
Variant:p.T43_W44insFs

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.T43_W44insFs
c.129_130insT
Surrounding Variants
1 paper
NM_014291.4
p.T43P
c.127A>C
1 paper
NM_014291.4
p.W44*
c.131G>A
1 paper
NM_014291.4
p.W44L
c.131G>T
1 paper
NM_014291.4
p.W44C
c.132G>C
1 paper
NM_014291.4
p.G42ins1
c.125_126insATG
1 paper
NM_014291.4
p.W44C
c.132G>T
1 paper
NM_014291.4
p.A41G
c.122C>G
1 paper
NM_014291.4
p.G42_R53del0
c.124_159del36
1 paper
NM_014291.4
p.S46S
c.138T>C
1 paper
NM_014291.4
p.E47A
c.140A>C
7 papers
NM_014291.4
p.R39C
c.115C>T
1 paper
NM_014291.4
p.I38M
c.114C>G
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