Varaico: Literature-Extracted Genetic Variants

Gene:AGA
Variant:p.S291L

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.S291L
c.872C>T
Surrounding Variants
1 paper
NM_000027.4
p.I290I
c.870T>C
1 paper
NM_000027.4
p.I293F
c.877A>T
1 paper
NM_000027.4
p.Q294*
c.880C>T
1 paper
NM_000027.4
p.K288N
c.864A>T
1 paper
NM_000027.4
p.K295*
c.883A>T
2 papers
NM_000027.4
p.C286S
c.857G>C
2 papers
NM_000027.4
p.C286S
c.856T>A
1 paper
NM_000027.4
p.I284V
c.850A>G
1 paper
NM_000027.4
p.P282L
c.845C>T
4 papers
NM_000027.4
p.G302R
c.904G>C
6 papers
NM_000027.4
p.G302R
c.904G>A
1 paper
NM_000027.4
p.A303P
c.907G>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."