Varaico: Literature-Extracted Genetic Variants

Gene:AGA
Variant:p.E58delFs

AGA

315 papers

RefSeq Summary

This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the ...

Pfam Domains

Asparaginase_2aa 6–335UCSCAsparaginase

Gene Aliases

HGNC Name

aspartylglucosaminidase

HGNC Alias Symbol

ASRG

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000027.4
p.E58delFs
c.173delT
Surrounding Variants
1 paper
NM_000027.4
p.S59I
c.176G>T
3 papers
NM_000027.4
p.V57A
c.170T>C
3 papers
NM_000027.4
p.V57E
c.170T>A
1 paper
NM_000027.4
p.G60S
c.178G>A
6 papers
NM_000027.4
p.G60D
c.179G>A
1 paper
NM_000027.4
p.V57_S59del3
c.169_176del9
1 paper
NM_000027.4
p.A56A
c.168A>T
1 paper
NM_000027.4
p.A56insFs
c.167_168insC
1 paper
NM_000027.4
p.C61G
c.181T>G
2 papers
NM_000027.4
p.C61S
c.181T>A
1 paper
NM_000027.4
p.A56V
c.167C>T
1 paper
NM_000027.4
p.C61S
c.182G>C
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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."