Varaico: Literature-Extracted Genetic Variants

Gene:GOT2
Variant:p.K82_A83Splc

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.K82_A83Splc
c.246+1G>A
Surrounding Variants
1 paper
NM_002080.4
p.K82_A83Splc
c.246+1G>T
1 paper
NM_002080.4
p.K82_A83Splc
c.246+2T>C
1 paper
NM_002080.4
p.R81H
c.242G>A
1 paper
NM_002080.4
p.R81C
c.241C>T
1 paper
NM_002080.4
p.R81G
c.241C>G
1 paper
NM_002080.4
p.P78L
c.233C>T
1 paper
NM_002080.4
p.Y75D
c.223T>G
1 paper
NM_002080.4
p.K73N
c.219G>T
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.D69A
c.206A>C
1 paper
NM_002080.4
p.D69insFs
c.205dupG
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