Varaico: Literature-Extracted Genetic Variants

Gene:GPT2
Variant:p.E247D

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.E247D
c.741G>C
Surrounding Variants
1 paper
NM_133443.4
p.E247D
c.741G>T
1 paper
NM_133443.4
p.V252L
c.754G>C
1 paper
NM_133443.4
p.V252L
c.754G>T
1 paper
NM_133443.4
p.A242A
c.726G>A
1 paper
NM_133443.4
p.Q253*
c.757C>T
1 paper
NM_133443.4
p.C259R
c.775T>C
1 paper
NM_133443.4
p.I266L
c.796A>C
1 paper
NM_133443.4
p.I266L
c.796A>T
1 paper
NM_133443.4
p.I267M
c.801C>G
1 paper
NM_133443.4
p.L226L
c.678C>T
1 paper
NM_133443.4
p.N271T
c.812A>C
6 papers
NM_133443.4
p.P272L
c.815C>T
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