Varaico: Literature-Extracted Genetic Variants

Gene:GOT1
Variant:p.S106_L107insFs

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.S106_L107insFs
c.318_319insT
Surrounding Variants
1 paper
NM_002079.3
p.T110A
c.328A>G
1 paper
NM_002079.3
p.Q105*
c.313C>T
2 papers
NM_002079.3
p.G111R
c.331G>C
1 paper
NM_002079.3
p.G111S
c.331G>A
1 paper
NM_002079.3
p.G111V
c.332G>T
3 papers
NM_002079.3
p.G103D
c.308G>A
1 paper
NM_002079.3
p.L113F
c.337C>T
1 paper
NM_002079.3
p.G102R
c.304G>A
1 paper
NM_002079.3
p.R114Q
c.341G>A
1 paper
NM_002079.3
p.V101fs
c.301_302fs
1 paper
NM_002079.3
p.R100_V101Splc
c.301-1G>A
1 paper
NM_002079.3
p.I115V
c.343A>G
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