Varaico: Literature-Extracted Genetic Variants

Gene:GPT2
Variant:p.S124T

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
1 paper
NM_133443.4
p.S124T
c.371G>C
Surrounding Variants
1 paper
NM_133443.4
p.S126S
c.378C>T
1 paper
NM_133443.4
p.E129*
c.385G>T
1 paper
NM_133443.4
p.L115Q
c.344T>A
2 papers
NM_133443.4
p.R134C
c.400C>T
1 paper
NM_133443.4
p.V112M
c.334G>A
1 paper
NM_133443.4
p.L147L
c.441G>T
1 paper
NM_133443.4
p.G148R
c.442G>A
1 paper
NM_133443.4
p.G148R
c.442G>C
1 paper
NM_133443.4
p.A100S
c.298G>T
4 papers
NM_133443.4
p.G96R
c.286G>A
4 papers
NM_133443.4
p.G96R
c.286G>C
1 paper
NM_133443.4
p.R92Q
c.275G>A
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