Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.K227Splc

AGXT

1,855 papers

RefSeq Summary

This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter ...

Pfam Domains

Aminotran_5aa 25–376UCSCAminotransferase class-V

Gene Aliases

HGNC Name

alanine--glyoxylate aminotransferase

HGNC Previous Symbol

SPAT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_000030.3
p.K227Splc
c.680+1G>C
Surrounding Variants
4 papers
NM_000030.3
p.K227Splc
c.680+1G>A
2 papers
NM_000030.3
p.K227Splc
c.680+1G>T
1 paper
NM_000030.3
p.K227Splc
c.680+2T>A
2 papers
NM_000030.3
p.K227E
c.679A>G
1 paper
NM_000030.3
p.K227Splc
c.680+3G>C
1 paper
NM_000030.3
p.K227insFs
c.680dupA
1 paper
NM_000030.3
p.A226A
c.678C>G
6 papers
NM_000030.3
p.K227delFs
c.679_680delAA
1 paper
NM_000030.3
p.A226G
c.677C>G
2 papers
NM_000030.3
p.A226V
c.677C>T
2 papers
NM_000030.3
p.K227Splc
c.680+5G>C
2 papers
NM_000030.3
p.A226T
c.676G>A
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