Varaico: Literature-Extracted Genetic Variants

Gene:AGA
Variant:p.V99V

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.V99V
c.297A>T
Surrounding Variants
6 papers
NM_000027.4
p.G100E
c.299G>A
2 papers
NM_000027.4
p.V99I
c.295G>A
1 paper
NM_000027.4
p.D98D
c.294T>C
1 paper
NM_000027.4
p.D98E
c.294T>A
1 paper
NM_000027.4
p.A101T
c.301G>A
1 paper
NM_000027.4
p.D98N
c.292G>A
5 papers
NM_000027.4
p.A101V
c.302C>T
1 paper
NM_000027.4
p.V102L
c.304G>C
1 paper
NM_000027.4
p.D104N
c.310G>A
1 paper
NM_000027.4
p.G94V
c.281G>T
3 papers
NM_000027.4
p.L105I
c.313C>A
1 paper
NM_000027.4
p.L105delFs
c.313_314delAG
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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."