Varaico: Literature-Extracted Genetic Variants

Gene:GOT1
Variant:p.R81L

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.R81L
c.242G>T
Surrounding Variants
1 paper
NM_002079.3
p.R81Q
c.242G>A
1 paper
NM_002079.3
p.L77M
c.229C>A
1 paper
NM_002079.3
p.R86C
c.256C>T
1 paper
NM_002079.3
p.L75_G76delFs
c.224_227del4
1 paper
NM_002079.3
p.R86H
c.257G>A
1 paper
NM_002079.3
p.G76C
c.226G>T
1 paper
NM_002079.3
p.L75R
c.224T>G
1 paper
NM_002079.3
p.L75fs
c.223_224fs
1 paper
NM_002079.3
p.P73delFs
c.218delG
1 paper
NM_002079.3
p.G90R
c.268G>C
1 paper
NM_002079.3
p.G90R
c.268G>A
1 paper
NM_002079.3
p.L72P
c.215T>C
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