Varaico: Literature-Extracted Genetic Variants

Gene:GOT1
Variant:p.F174C

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.F174C
c.521T>G
Surrounding Variants
1 paper
NM_002079.3
p.F174L
c.520T>C
1 paper
NM_002079.3
p.F174L
c.522C>G
1 paper
NM_002079.3
p.F174L
c.522C>A
1 paper
NM_002079.3
p.L175P
c.524T>C
1 paper
NM_002079.3
p.G173A
c.518G>C
2 papers
NM_002079.3
p.L171F
c.511C>T
1 paper
NM_002079.3
p.G168V
c.503G>T
1 paper
NM_002079.3
p.G168E
c.503G>A
1 paper
NM_002079.3
p.G168R
c.502G>A
1 paper
NM_002079.3
p.D163N
c.487G>A
2 papers
NM_002079.3
p.W162C
c.486G>T
2 papers
NM_002079.3
p.W162C
c.486G>C
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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."