Varaico: Literature-Extracted Genetic Variants

Gene:AGA
Variant:p.C163Y

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.C163Y
c.488G>A
Surrounding Variants
1 paper
NM_000027.4
p.C163F
c.488G>T
29 papers
NM_000027.4
p.C163S
c.488G>C
27 papers
NM_000027.4
p.C163S
c.487T>A
1 paper
NM_000027.4
p.A160_N162del3
c.478_485del9
19 papers
NM_000027.4
p.R161Q
c.482G>A
1 paper
NM_000027.4
p.P165P
c.495A>C
1 paper
NM_000027.4
p.N166Y
c.496A>T
5 papers
NM_000027.4
p.W168*
c.503G>A
4 papers
NM_000027.4
p.W168*
c.504G>A
1 paper
NM_000027.4
p.D157G
c.470A>G
1 paper
NM_000027.4
p.D157Y
c.469G>T
1 paper
NM_000027.4
p.D157N
c.469G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."