Varaico: Literature-Extracted Genetic Variants

Gene:GOT1
Variant:p.E204G

GOT1

210 papers

RefSeq Summary

Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism...

Pfam Domains

Aminotran_1_2aa 31–405UCSCAminotransferase class I and II

Gene Aliases

HGNC Name

glutamic-oxaloacetic transaminase 1

HGNC Alias Symbols

AST1; SGOT; AST

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002079.3
p.E204G
c.611A>G
Surrounding Variants
1 paper
NM_002079.3
p.T202I
c.605C>T
2 papers
NM_002079.3
p.Q208*
c.622C>T
2 papers
NM_002079.3
p.Q208E
c.622C>G
1 paper
NM_002079.3
p.I199F
c.595A>T
1 paper
NM_002079.3
p.G198_I199insFs
c.594_595insC
1 paper
NM_002079.3
p.G198R
c.592G>C
1 paper
NM_002079.3
p.G198R
c.592G>A
1 paper
NM_002079.3
p.S211F
c.632C>T
1 paper
NM_002079.3
p.A193V
c.578C>T
1 paper
NM_002079.3
p.C192Y
c.575G>A
1 paper
NM_002079.3
p.A191P
c.571G>C
2 papers
NM_002079.3
p.E183G
c.548A>G
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