Varaico: Literature-Extracted Genetic Variants

Gene:GOT2
Variant:p.T55A

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
2 papers
NM_002080.4
p.T55A
c.163A>G
Surrounding Variants
1 paper
NM_002080.4
p.N61S
c.182A>G
1 paper
NM_002080.4
p.G65V
c.194G>T
1 paper
NM_002080.4
p.G65A
c.194G>C
1 paper
NM_002080.4
p.A66T
c.196G>A
1 paper
NM_002080.4
p.R68W
c.202C>T
1 paper
NM_002080.4
p.R68insFs
c.202_203insA
1 paper
NM_002080.4
p.D69A
c.206A>C
1 paper
NM_002080.4
p.D69insFs
c.205dupG
1 paper
NM_002080.4
p.R68_D69insFs
c.203_206dup4
1 paper
NM_002080.4
p.V64_D69delFs
c.190_206del17
1 paper
NM_002080.4
p.M38T
c.113T>C
1 paper
NM_002080.4
p.K73N
c.219G>T
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