Varaico: Literature-Extracted Genetic Variants

Gene:GPT
Variant:p.Q285del1

GPT

163 papers

RefSeq Summary

This gene encodes cytosolic alanine aminotransaminase 1 (ALT1); also known as glutamate-pyruvate transaminase 1. This enzyme catalyzes the reversible transamination between alanine and 2-oxoglutarate ...

Pfam Domains

Aminotran_1_2aa 83–484UCSCAminotransferase class I and II

Gene Aliases

HGNC Name

glutamic--pyruvic transaminase

HGNC Alias Symbols

ALT1; ALT; GPT1; SGPT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005309.3
p.Q285del1
c.853_855delCAG
Surrounding Variants
1 paper
NM_005309.3
p.S284L
c.851C>T
1 paper
NM_005309.3
p.V292insFs
c.874_875insA
1 paper
NM_005309.3
p.G297E
c.890G>A
1 paper
NM_005309.3
p.A301T
c.901G>A
1 paper
NM_005309.3
p.Q303*
c.907C>T
1 paper
NM_005309.3
p.F309S
c.926T>C
1 paper
NM_005309.3
p.G318delFs
c.952_953delGG
1 paper
NM_005309.3
p.G318delins
c.952_953delinsTT
1 paper
NM_005309.3
p.F263del1
c.787_788delTTC
1 paper
NM_005309.3
p.C254R
c.760T>C
1 paper
NM_005309.3
p.G321V
c.962G>T
1 paper
NM_005309.3
p.R323C
c.967C>T
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