Varaico: Literature-Extracted Genetic Variants

Gene:GPT2
Variant:p.G96R

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
4 papers
NM_133443.4
p.G96R
c.286G>C
Surrounding Variants
4 papers
NM_133443.4
p.G96R
c.286G>A
1 paper
NM_133443.4
p.R92Q
c.275G>A
2 papers
NM_133443.4
p.R92*
c.274C>T
1 paper
NM_133443.4
p.A100S
c.298G>T
1 paper
NM_133443.4
p.E89A
c.266A>C
1 paper
NM_133443.4
p.E89G
c.266A>G
1 paper
NM_133443.4
p.T88I
c.263C>T
1 paper
NM_133443.4
p.V112M
c.334G>A
1 paper
NM_133443.4
p.L115Q
c.344T>A
1 paper
NM_133443.4
p.S124T
c.371G>C
1 paper
NM_133443.4
p.S126S
c.378C>T
1 paper
NM_133443.4
p.E129*
c.385G>T
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