Varaico: Literature-Extracted Genetic Variants

Gene:GPT
Variant:p.N153S

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.N153S
c.458A>G
Surrounding Variants
1 paper
NM_005309.3
p.V154I
c.460G>A
1 paper
NM_005309.3
p.F155L
c.463T>C
1 paper
NM_005309.3
p.V165L
c.493G>C
1 paper
NM_005309.3
p.V165_T166Splc
c.495+5G>A
1 paper
NM_005309.3
p.R133W
c.397C>T
1 paper
NM_005309.3
p.G128D
c.383G>A
1 paper
NM_005309.3
p.S127F
c.380C>T
1 paper
NM_005309.3
p.V165_T166Splc
c.496-1G>C
1 paper
NM_005309.3
p.L168L
c.502C>T
2 papers
NM_005309.3
p.L170L
c.508C>T
1 paper
NM_005309.3
p.L171L
c.511C>T
1 paper
NM_005309.3
p.V172A
c.515T>C
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