Varaico: Literature-Extracted Genetic Variants

Gene:AGXT2
Variant:p.N406K

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.N406K
c.1218C>G
Surrounding Variants
1 paper
NM_031900.4
p.N406K
c.1218C>A
1 paper
NM_031900.4
p.Q404*
c.1210C>T
1 paper
NM_031900.4
p.L403L
c.1209A>G
1 paper
NM_031900.4
p.G411V
c.1232G>T
1 paper
NM_031900.4
p.V397M
c.1189G>A
1 paper
NM_031900.4
p.K434*
c.1300A>T
1 paper
NM_031900.4
p.G435G
c.1305T>C
1 paper
NM_031900.4
p.G439G
c.1317C>T
1 paper
NM_031900.4
p.I440V
c.1318A>G
1 paper
NM_031900.4
p.K446_I447Splc
c.1338+1921A>G
2 papers
NM_031900.4
p.E396_V397Splc
c.1188+1G>A
1 paper
NM_031900.4
p.M386fs
c.1156_1157fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."