Varaico: Literature-Extracted Genetic Variants

Gene:AGXT2
Variant:p.L74H

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
2 papers
NM_031900.4
p.L74H
c.221T>A
Surrounding Variants
1 paper
NM_031900.4
p.E72K
c.214G>A
1 paper
NM_031900.4
p.I69S
c.206T>G
1 paper
NM_031900.4
p.T79M
c.236C>T
1 paper
NM_031900.4
p.T79K
c.236C>A
1 paper
NM_031900.4
p.A80T
c.238G>A
7 papers
NM_031900.4
p.S102N
c.305G>A
1 paper
NM_031900.4
p.D106Y
c.316G>T
1 paper
NM_031900.4
p.D106N
c.316G>A
1 paper
NM_031900.4
p.S115I
c.344G>T
1 paper
NM_031900.4
p.P121Splc
c.362+1G>A
1 paper
NM_031900.4
p.Y58F
c.173A>T
1 paper
NM_031900.4
p.M48T
c.143T>C
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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."