Varaico: Literature-Extracted Genetic Variants

Gene:GOT1

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
1–12 of 211 variants
3 papers
NM_002079.3
p.R42C
c.124C>T
3 papers
NM_002079.3
p.G103D
c.308G>A
2 papers
NM_002079.3
p.M1V
c.1A>G
2 papers
NM_002079.3
p.A95T
c.283G>A
2 papers
NM_002079.3
p.G111R
c.331G>C
2 papers
NM_002079.3
p.F119L
c.355T>C
2 papers
NM_002079.3
p.F119L
c.357C>G
2 papers
NM_002079.3
p.F119L
c.357C>A
2 papers
NM_002079.3
p.W162C
c.486G>T
2 papers
NM_002079.3
p.W162C
c.486G>C
2 papers
NM_002079.3
p.L171F
c.511C>T
2 papers
NM_002079.3
p.E183G
c.548A>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."