Varaico: Literature-Extracted Genetic Variants

Gene:GOT2
Variant:p.I168V

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.I168V
c.502A>G
Surrounding Variants
1 paper
NM_002080.4
p.G173C
c.517G>T
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.P160S
c.478C>T
1 paper
NM_002080.4
p.K159*
c.475A>T
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.L157L
c.471G>A
1 paper
NM_002080.4
p.F156S
c.467T>C
1 paper
NM_002080.4
p.R180W
c.538C>T
1 paper
NM_002080.4
p.D154N
c.460G>A
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