Varaico: Literature-Extracted Genetic Variants

Gene:AGA
Variant:p.I112_V114del3

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.I112_V114del3
c.334_341del9
Surrounding Variants
3 papers
NM_000027.4
p.R116W
c.346C>T
1 paper
NM_000027.4
p.G113fs
c.337_338fs
1 paper
NM_000027.4
p.R116insFs
c.347_348insA
2 papers
NM_000027.4
p.R116_K117del2
c.346_350del6
1 paper
NM_000027.4
p.I112F
c.334A>T
1 paper
NM_000027.4
p.I112_G113ins5
c.334_338ins15
1 paper
NM_000027.4
p.K109R
c.326A>G
1 paper
NM_000027.4
p.H121Y
c.361C>T
1 paper
NM_000027.4
p.I108M
c.324T>G
1 paper
NM_000027.4
p.A101_R107del7
c.301_320del21
7 papers
NM_000027.4
p.T122K
c.365C>A
1 paper
NM_000027.4
p.T122fs
c.364_365fs
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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."