Varaico: Literature-Extracted Genetic Variants

Gene:GPT
Variant:p.V172A

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.V172A
c.515T>C
Surrounding Variants
1 paper
NM_005309.3
p.L171L
c.511C>T
1 paper
NM_005309.3
p.G174S
c.520G>A
1 paper
NM_005309.3
p.G174C
c.520G>T
2 papers
NM_005309.3
p.L170L
c.508C>T
1 paper
NM_005309.3
p.L168L
c.502C>T
1 paper
NM_005309.3
p.V165_T166Splc
c.496-1G>C
1 paper
NM_005309.3
p.I184I
c.552C>A
1 paper
NM_005309.3
p.P190S
c.568C>T
1 paper
NM_005309.3
p.A201V
c.602C>T
1 paper
NM_005309.3
p.Y206*
c.618C>A
1 paper
NM_005309.3
p.L208L
c.622C>T
1 paper
NM_005309.3
p.V165_T166Splc
c.495+5G>A
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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."