Varaico: Literature-Extracted Genetic Variants

Gene:GPT2
Variant:p.D422Y

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.D422Y
c.1264G>T
Surrounding Variants
1 paper
NM_133443.4
p.Y440C
c.1319A>G
1 paper
NM_133443.4
p.A441T
c.1321G>A
1 paper
NM_133443.4
p.A441V
c.1322C>T
7 papers
NM_133443.4
p.R404*
c.1210C>T
1 paper
NM_133443.4
p.V393fs
c.1177_1178fs
1 paper
NM_133443.4
p.P392L
c.1175C>T
2 papers
NM_133443.4
p.P391L
c.1172C>T
1 paper
NM_133443.4
p.P392insFs
c.1175dupC
1 paper
NM_133443.4
p.V388A
c.1163T>C
1 paper
NM_133443.4
p.A384D
c.1151C>A
1 paper
NM_133443.4
p.S380fs
c.1138_1139fs
1 paper
NM_133443.4
p.V379delFs
c.1137delG
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