Varaico: Literature-Extracted Genetic Variants

Gene:GOT2
Variant:p.A240E

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.A240E
c.719C>A
Surrounding Variants
1 paper
NM_002080.4
p.A240S
c.718G>T
1 paper
NM_002080.4
p.A240T
c.718G>A
2 papers
NM_002080.4
p.D257N
c.769G>A
1 paper
NM_002080.4
p.D257A
c.770A>C
2 papers
NM_002080.4
p.R262C
c.784C>T
5 papers
NM_002080.4
p.R262G
c.784C>G
1 paper
NM_002080.4
p.Q267*
c.799C>T
1 paper
NM_002080.4
p.Q267Q
c.801G>A
1 paper
NM_002080.4
p.C272C
c.816C>T
1 paper
NM_002080.4
p.C274Y
c.821G>A
1 paper
NM_002080.4
p.A278A
c.834C>T
1 paper
NM_002080.4
p.R287R
c.861T>A
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