Varaico: Literature-Extracted Genetic Variants

Gene:AGXT2
Variant:p.M24L

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.M24L
c.70A>T
Surrounding Variants
1 paper
NM_031900.4
p.M24L
c.70A>C
1 paper
NM_031900.4
p.P26R
c.77C>G
1 paper
NM_031900.4
p.L12M
c.34T>A
1 paper
NM_031900.4
p.P11L
c.32C>T
1 paper
NM_031900.4
p.R6K
c.17G>A
1 paper
NM_031900.4
p.L30Splc
c.89-3530G>C
1 paper
NM_031900.4
p.T38I
c.113C>T
1 paper
NM_031900.4
p.S41C
c.121A>T
1 paper
NM_031900.4
p.M48T
c.143T>C
1 paper
NM_031900.4
p.Y58F
c.173A>T
1 paper
NM_031900.4
p.I69S
c.206T>G
1 paper
NM_031900.4
p.E72K
c.214G>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."