Varaico: Literature-Extracted Genetic Variants

Gene:AGXT2
Variant:p.A372V

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.A372V
c.1115C>T
Surrounding Variants
1 paper
NM_031900.4
p.K373N
c.1119A>T
1 paper
NM_031900.4
p.K373N
c.1119A>C
1 paper
NM_031900.4
p.C374Y
c.1121G>A
1 paper
NM_031900.4
p.A368V
c.1103C>T
1 paper
NM_031900.4
p.G383W
c.1147G>T
1 paper
NM_031900.4
p.P385delFs
c.1155delG
1 paper
NM_031900.4
p.M386fs
c.1156_1157fs
2 papers
NM_031900.4
p.E396_V397Splc
c.1188+1G>A
1 paper
NM_031900.4
p.A360E
c.1079C>A
1 paper
NM_031900.4
p.R328K
c.983G>A
1 paper
NM_031900.4
p.V397M
c.1189G>A
1 paper
NM_031900.4
p.L403L
c.1209A>G
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