Varaico: Literature-Extracted Genetic Variants

Gene:GOT1
Variant:p.R157Q

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.R157Q
c.470G>A
Surrounding Variants
1 paper
NM_002079.3
p.R157W
c.469C>T
1 paper
NM_002079.3
p.R157R
c.469C>A
1 paper
NM_002079.3
p.I156M
c.468T>G
1 paper
NM_002079.3
p.Y159C
c.476A>G
1 paper
NM_002079.3
p.R160H
c.479G>A
2 papers
NM_002079.3
p.W162C
c.486G>T
1 paper
NM_002079.3
p.G152C
c.454G>T
2 papers
NM_002079.3
p.W162C
c.486G>C
1 paper
NM_002079.3
p.G152S
c.454G>A
1 paper
NM_002079.3
p.D163N
c.487G>A
1 paper
NM_002079.3
p.A151T
c.451G>A
1 paper
NM_002079.3
p.A150P
c.448G>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."