Varaico: Literature-Extracted Genetic Variants

Gene:GOT2
Variant:p.R180W

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
Selected Variant
1 paper
NM_002080.4
p.R180W
c.538C>T
Surrounding Variants
1 paper
NM_002080.4
p.Q177H
c.531A>T
1 paper
NM_002080.4
p.Q177H
c.531A>C
1 paper
NM_002080.4
p.G173C
c.517G>T
5 papers
NM_002080.4
p.G188S
c.562G>A
1 paper
NM_002080.4
p.I168V
c.502A>G
1 paper
NM_002080.4
p.E196V
c.587A>T
2 papers
NM_002080.4
p.D197N
c.589G>A
2 papers
NM_002080.4
p.W162*
c.486G>A
3 papers
NM_002080.4
p.W162*
c.485G>A
1 paper
NM_002080.4
p.T161I
c.482C>T
1 paper
NM_002080.4
p.S199_K200Splc
c.597+1G>T
1 paper
NM_002080.4
p.S199_K200Splc
c.597+1G>A
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