Varaico: Literature-Extracted Genetic Variants

Gene:AGXT2
Variant:p.E175K

AGXT2

95 papers

RefSeq Summary

The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. I...

Pfam Domains

Aminotran_3aa 79–505UCSCAminotransferase class-III

Gene Aliases

HGNC Name

alanine--glyoxylate aminotransferase 2

HGNC Alias Symbol

AGT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031900.4
p.E175K
c.523G>A
Surrounding Variants
1 paper
NM_031900.4
p.G170R
c.508G>C
1 paper
NM_031900.4
p.R194G
c.580A>G
1 paper
NM_031900.4
p.R194Splc
c.581+215C>T
1 paper
NM_031900.4
p.H143L
c.428A>T
1 paper
NM_031900.4
p.G195R
c.583G>C
1 paper
NM_031900.4
p.G195R
c.583G>A
28 papers
NM_031900.4
p.V140I
c.418G>A
2 papers
NM_031900.4
p.G132R
c.394G>C
1 paper
NM_031900.4
p.V210I
c.628G>A
4 papers
NM_031900.4
p.T212I
c.635C>T
1 paper
NM_031900.4
p.G220R
c.658G>C
1 paper
NM_031900.4
p.G220R
c.658G>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."