Varaico: Literature-Extracted Genetic Variants

Gene:GOT1
Variant:p.F119L

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
2 papers
NM_002079.3
p.F119L
c.357C>G
Surrounding Variants
2 papers
NM_002079.3
p.F119L
c.357C>A
2 papers
NM_002079.3
p.F119L
c.355T>C
1 paper
NM_002079.3
p.A121T
c.361G>A
1 paper
NM_002079.3
p.D118N
c.352G>A
1 paper
NM_002079.3
p.R122C
c.364C>T
1 paper
NM_002079.3
p.A117D
c.350C>A
1 paper
NM_002079.3
p.R122delins
c.364_365delinsAA
1 paper
NM_002079.3
p.G116A
c.347G>C
1 paper
NM_002079.3
p.W123S
c.368G>C
1 paper
NM_002079.3
p.G116R
c.346G>A
1 paper
NM_002079.3
p.Y124H
c.370T>C
1 paper
NM_002079.3
p.I115V
c.343A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."