Varaico: Literature-Extracted Genetic Variants

Gene:GPT2

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
1–12 of 86 variants
7 papers
NM_133443.4
p.S153R
c.457A>C
7 papers
NM_133443.4
p.S153R
c.459C>A
7 papers
NM_133443.4
p.S153R
c.459C>G
7 papers
NM_133443.4
p.R404*
c.1210C>T
6 papers
NM_133443.4
p.P272L
c.815C>T
4 papers
NM_133443.4
p.G96R
c.286G>A
4 papers
NM_133443.4
p.G96R
c.286G>C
3 papers
NM_133443.4
p.V479M
c.1435G>A
2 papers
NM_133443.4
p.Q24*
c.70C>T
2 papers
NM_133443.4
p.Q80E
c.238C>G
2 papers
NM_133443.4
p.R92*
c.274C>T
2 papers
NM_133443.4
p.R134C
c.400C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."