Varaico: Literature-Extracted Genetic Variants

Gene:GOT2
Variant:p.K364E

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
3 papers
NM_002080.4
p.K364E
c.1090A>G
Surrounding Variants
1 paper
NM_002080.4
p.K363Q
c.1087A>C
3 papers
NM_002080.4
p.G366V
c.1097G>T
1 paper
NM_002080.4
p.L358V
c.1072C>G
1 paper
NM_002080.4
p.R355W
c.1063C>T
1 paper
NM_002080.4
p.M354L
c.1060A>T
1 paper
NM_002080.4
p.M354L
c.1060A>C
1 paper
NM_002080.4
p.G353G
c.1059C>G
1 paper
NM_002080.4
p.R350H
c.1049G>A
1 paper
NM_002080.4
p.D349N
c.1045G>A
3 papers
NM_002080.4
p.V346G
c.1037T>G
1 paper
NM_002080.4
p.W340Splc
c.1020-2A>G
1 paper
NM_002080.4
p.E389A
c.1166A>C
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