Varaico: Literature-Extracted Genetic Variants

Gene:AGXT2
Variant:p.R502C

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.R502C
c.1504C>T
Surrounding Variants
1 paper
NM_031900.4
p.R502H
c.1505G>A
7 papers
NM_031900.4
p.V498L
c.1492G>T
7 papers
NM_031900.4
p.V498L
c.1492G>C
2 papers
NM_031900.4
p.P492R
c.1475C>G
1 paper
NM_031900.4
p.A513A
c.1539T>G
1 paper
NM_031900.4
p.A484A
c.1452G>A
1 paper
NM_031900.4
p.A484V
c.1451C>T
1 paper
NM_031900.4
p.R482C
c.1444C>T
1 paper
NM_031900.4
p.K446_I447Splc
c.1338+1921A>G
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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."