Varaico: Literature-Extracted Genetic Variants

Gene:GOT2

GOT2

224 papers

RefSeq Summary

Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino a...

Pfam Domains

Aminotran_1_2aa 57–425UCSCAminotransferase class I and II

Gene Aliases

HGNC Name

glutamic-oxaloacetic transaminase 2

HGNC Alias Symbols

mitAAT; KATIV; KAT4; KYAT4; mAspAT

Papers
RefSeq ID
Protein change
DNA change
1–12 of 150 variants
5 papers
NM_002080.4
p.G188S
c.562G>A
5 papers
NM_002080.4
p.R262G
c.784C>G
4 papers
NM_002080.4
p.L209del1
c.625_626delCAG
4 papers
NM_002080.4
p.R337G
c.1009C>G
3 papers
NM_002080.4
p.W162*
c.485G>A
3 papers
NM_002080.4
p.V346G
c.1037T>G
3 papers
NM_002080.4
p.K364E
c.1090A>G
3 papers
NM_002080.4
p.G366V
c.1097G>T
2 papers
NM_002080.4
p.L3L
c.7C>T
2 papers
NM_002080.4
p.F17L
c.51C>G
2 papers
NM_002080.4
p.W32R
c.94T>A
2 papers
NM_002080.4
p.T55A
c.163A>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."