Varaico: Literature-Extracted Genetic Variants

Gene:GPT
Variant:p.I68L

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.I68L
c.202A>C
Surrounding Variants
1 paper
NM_005309.3
p.R65fs
c.193_194fs
1 paper
NM_005309.3
p.I64N
c.191T>A
1 paper
NM_005309.3
p.I64V
c.190A>G
1 paper
NM_005309.3
p.Q76K
c.226C>A
1 paper
NM_005309.3
p.R77delFs
c.229delA
3 papers
NM_005309.3
p.K58N
c.174G>C
1 paper
NM_005309.3
p.K57E
c.169A>G
1 paper
NM_005309.3
p.T80A
c.238A>G
1 paper
NM_005309.3
p.Q84*
c.250C>T
2 papers
NM_005309.3
p.Q84_V85Splc
c.252+5G>A
1 paper
NM_005309.3
p.Q54K
c.160C>A
1 paper
NM_005309.3
p.D102insFs
c.304_305insC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."