Varaico: Literature-Extracted Genetic Variants

Gene:GOT1
Variant:p.R114Q

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.R114Q
c.341G>A
Surrounding Variants
1 paper
NM_002079.3
p.I115V
c.343A>G
1 paper
NM_002079.3
p.L113F
c.337C>T
1 paper
NM_002079.3
p.G116R
c.346G>A
1 paper
NM_002079.3
p.G116A
c.347G>C
1 paper
NM_002079.3
p.G111V
c.332G>T
1 paper
NM_002079.3
p.A117D
c.350C>A
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.D118N
c.352G>A
1 paper
NM_002079.3
p.T110A
c.328A>G
2 papers
NM_002079.3
p.F119L
c.355T>C
2 papers
NM_002079.3
p.F119L
c.357C>G
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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."