Varaico: Literature-Extracted Genetic Variants

Gene:GPT2
Variant:p.S153R

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
7 papers
NM_133443.4
p.S153R
c.457A>C
Surrounding Variants
7 papers
NM_133443.4
p.S153R
c.459C>A
7 papers
NM_133443.4
p.S153R
c.459C>G
1 paper
NM_133443.4
p.R170R
c.510G>A
1 paper
NM_133443.4
p.G173S
c.517G>A
1 paper
NM_133443.4
p.D179A
c.536A>C
1 paper
NM_133443.4
p.S188insFs
c.564dupT
1 paper
NM_133443.4
p.G202S
c.604G>A
1 paper
NM_133443.4
p.P212S
c.634C>T
1 paper
NM_133443.4
p.L226L
c.678C>T
1 paper
NM_133443.4
p.A242A
c.726G>A
1 paper
NM_133443.4
p.E247D
c.741G>C
1 paper
NM_133443.4
p.E247D
c.741G>T
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