Varaico: Literature-Extracted Genetic Variants

Gene:GPT2
Variant:p.Q24*

GPT2

70 papers

RefSeq Summary

This gene encodes a mitochondrial alanine transaminase, a pyridoxal enzyme that catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate. Alanine t...

Pfam Domains

Aminotran_1_2aa 110–511UCSCAminotransferase class I and II

Gene Aliases

HGNC Name

glutamic--pyruvic transaminase 2

HGNC Alias Symbol

ALT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_133443.4
p.Q24*
c.70C>T
Surrounding Variants
1 paper
NM_133443.4
p.G21R
c.61G>C
1 paper
NM_133443.4
p.S19Y
c.56C>A
1 paper
NM_133443.4
p.P17L
c.50C>T
1 paper
NM_133443.4
p.G13D
c.38G>A
1 paper
NM_133443.4
p.L35I
c.103C>A
1 paper
NM_133443.4
p.N54K
c.162C>A
1 paper
NM_133443.4
p.I68F
c.202A>T
1 paper
NM_133443.4
p.A72A
c.216C>T
1 paper
NM_133443.4
p.G73S
c.217G>A
2 papers
NM_133443.4
p.Q80E
c.238C>G
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