Varaico: Literature-Extracted Genetic Variants

Gene:GOT1
Variant:p.M1V

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
2 papers
NM_002079.3
p.M1V
c.1A>G
Surrounding Variants
1 paper
NM_002079.3
p.P3insFs
c.7dupC
1 paper
NM_002079.3
p.S5*
c.14C>G
1 paper
NM_002079.3
p.V6I
c.16G>A
1 paper
NM_002079.3
p.F7I
c.19T>A
1 paper
NM_002079.3
p.A8T
c.22G>A
1 paper
NM_002079.3
p.Q12Q
c.36G>A
1 paper
NM_002079.3
p.P15R
c.44C>G
1 paper
NM_002079.3
p.L17L
c.51G>C
1 paper
NM_002079.3
p.V18A
c.53T>C
1 paper
NM_002079.3
p.L21H
c.62T>A
1 paper
NM_002079.3
p.D28Y
c.82G>T
1 paper
NM_002079.3
p.D28N
c.82G>A
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