Varaico: Literature-Extracted Genetic Variants

Gene:AGA
Variant:p.H217insFs

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.H217insFs
c.649_650insG
Surrounding Variants
1 paper
NM_000027.4
p.A219S
c.655G>T
1 paper
NM_000027.4
p.T215A
c.643A>G
2 papers
NM_000027.4
p.V210I
c.628G>A
2 papers
NM_000027.4
p.T224S
c.670A>T
2 papers
NM_000027.4
p.T224A
c.670A>G
1 paper
NM_000027.4
p.T224I
c.671C>T
1 paper
NM_000027.4
p.T224T
c.672A>C
1 paper
NM_000027.4
p.G208D
c.623G>A
1 paper
NM_000027.4
p.G208Splc
c.623-1G>C
1 paper
NM_000027.4
p.G208Splc
c.623-1G>A
1 paper
NM_000027.4
p.G226A
c.677G>C
6 papers
NM_000027.4
p.G226D
c.677G>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."