Varaico: Literature-Extracted Genetic Variants

Gene:GPT
Variant:p.P421delFs

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.P421delFs
c.1263delC
Surrounding Variants
1 paper
NM_005309.3
p.F397S
c.1190T>C
1 paper
NM_005309.3
p.A390T
c.1168G>A
1 paper
NM_005309.3
p.A387E
c.1160C>A
1 paper
NM_005309.3
p.L386P
c.1157T>C
1 paper
NM_005309.3
p.L386L
c.1156C>T
1 paper
NM_005309.3
p.L431L
c.1293G>C
1 paper
NM_005309.3
p.A384_A387del0
c.1152_1160del9
1 paper
NM_005309.3
p.F439Y
c.1316T>A
5 papers
NM_005309.3
p.L444P
c.1331T>C
2 papers
NM_005309.3
p.L444R
c.1331T>G
1 paper
NM_005309.3
p.G448R
c.1342G>C
1 paper
NM_005309.3
p.V452G
c.1355T>G
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