Varaico: Literature-Extracted Genetic Variants

Gene:GOT1
Variant:p.H47D

GOT1

210 papers

RefSeq Summary

Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism...

Pfam Domains

Aminotran_1_2aa 31–405UCSCAminotransferase class I and II

Gene Aliases

HGNC Name

glutamic-oxaloacetic transaminase 1

HGNC Alias Symbols

AST1; SGOT; AST

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002079.3
p.H47D
c.139C>G
Surrounding Variants
1 paper
NM_002079.3
p.D44G
c.131A>G
1 paper
NM_002079.3
p.V50I
c.148G>A
1 paper
NM_002079.3
p.T43M
c.128C>T
1 paper
NM_002079.3
p.R42H
c.125G>A
3 papers
NM_002079.3
p.R42C
c.124C>T
1 paper
NM_002079.3
p.V54M
c.160G>A
1 paper
NM_002079.3
p.A40Splc
c.119-11C>T
1 paper
NM_002079.3
p.E58D
c.174G>C
1 paper
NM_002079.3
p.Q59L
c.176A>T
1 paper
NM_002079.3
p.I61F
c.181A>T
1 paper
NM_002079.3
p.I61M
c.183T>G
1 paper
NM_002079.3
p.D64E
c.192C>G
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