Varaico: Literature-Extracted Genetic Variants

Gene:GOT2
Variant:p.A23V

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.A23V
c.68C>T
Surrounding Variants
1 paper
NM_002080.4
p.A24T
c.70G>A
1 paper
NM_002080.4
p.G20R
c.58G>C
1 paper
NM_002080.4
p.P19R
c.56C>G
1 paper
NM_002080.4
p.P19S
c.55C>T
1 paper
NM_002080.4
p.R28I
c.83G>T
1 paper
NM_002080.4
p.A29S
c.85G>T
1 paper
NM_002080.4
p.F17F
c.51C>T
2 papers
NM_002080.4
p.F17L
c.51C>G
1 paper
NM_002080.4
p.F17Y
c.50T>A
1 paper
NM_002080.4
p.I13N
c.38T>A
1 paper
NM_002080.4
p.G12G
c.36G>A
1 paper
NM_002080.4
p.G12W
c.34G>T
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