Varaico: Literature-Extracted Genetic Variants

Gene:GPT
Variant:p.M1I

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
2 papers
NM_005309.3
p.M1I
c.3G>C
Surrounding Variants
3 papers
NM_005309.3
p.M1I
c.3G>A
2 papers
NM_005309.3
p.M1I
c.3G>T
1 paper
NM_005309.3
p.M1delFs
c.2delT
1 paper
NM_005309.3
p.A2G
c.5C>G
1 paper
NM_005309.3
p.S3*
c.8C>A
1 paper
NM_005309.3
p.S3S
c.9G>A
1 paper
NM_005309.3
p.S4R
c.12C>G
1 paper
NM_005309.3
p.T5R
c.14C>G
1 paper
NM_005309.3
p.D7V
c.20A>T
1 paper
NM_005309.3
p.R13delFs
c.38delG
1 paper
NM_005309.3
p.H14N
c.40C>A
1 paper
NM_005309.3
p.G15E
c.44G>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."