Varaico: Literature-Extracted Genetic Variants

Gene:GPT2
Variant:p.V479M

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
3 papers
NM_133443.4
p.V479M
c.1435G>A
Surrounding Variants
1 paper
NM_133443.4
p.V478fs
c.1432_1433fs
1 paper
NM_133443.4
p.V478delFs
c.1432_1433delGT
1 paper
NM_133443.4
p.G483G
c.1449C>G
1 paper
NM_133443.4
p.C467Y
c.1400G>A
1 paper
NM_133443.4
p.M460T
c.1379T>C
1 paper
NM_133443.4
p.R494Splc
c.1481+13C>T
1 paper
NM_133443.4
p.K503K
c.1509G>A
1 paper
NM_133443.4
p.A523V
c.1568C>T
1 paper
NM_133443.4
p.A441V
c.1322C>T
1 paper
NM_133443.4
p.A441T
c.1321G>A
1 paper
NM_133443.4
p.Y440C
c.1319A>G
1 paper
NM_133443.4
p.D422Y
c.1264G>T
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