Varaico: Literature-Extracted Genetic Variants

Gene:GOT2
Variant:p.E224G

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.E224G
c.671A>G
Surrounding Variants
1 paper
NM_002080.4
p.A211delFs
c.631delC
1 paper
NM_002080.4
p.H210R
c.629A>G
4 papers
NM_002080.4
p.L209del1
c.625_626delCAG
1 paper
NM_002080.4
p.V206_L207del1
c.617_619delGAA
1 paper
NM_002080.4
p.Q204H
c.612G>T
1 paper
NM_002080.4
p.Q204H
c.612G>C
1 paper
NM_002080.4
p.P202_E203insA
c.604_608ins3
1 paper
NM_002080.4
p.S199_K200Splc
c.598-1G>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
2 papers
NM_002080.4
p.D197N
c.589G>A
1 paper
NM_002080.4
p.E196V
c.587A>T
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