Varaico: Literature-Extracted Genetic Variants

Gene:AGA
Variant:p.L54P

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.L54P
c.161T>C
Surrounding Variants
1 paper
NM_000027.4
p.L54Q
c.161T>A
1 paper
NM_000027.4
p.L54M
c.160C>A
3 papers
NM_000027.4
p.D55N
c.163G>A
1 paper
NM_000027.4
p.L54del1
c.160_161delCAG
1 paper
NM_000027.4
p.A53T
c.157G>A
1 paper
NM_000027.4
p.A56V
c.167C>T
1 paper
NM_000027.4
p.S52F
c.155C>T
1 paper
NM_000027.4
p.A56A
c.168A>T
1 paper
NM_000027.4
p.A56insFs
c.167_168insC
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.G50delFs
c.150delT
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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."