Varaico: Literature-Extracted Genetic Variants

Gene:AGA
Variant:p.C306R

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
7 papers
NM_000027.4
p.C306R
c.916T>C
Surrounding Variants
2 papers
NM_000027.4
p.C306S
c.916T>A
2 papers
NM_000027.4
p.C306S
c.917G>C
1 paper
NM_000027.4
p.A307D
c.920C>A
1 paper
NM_000027.4
p.V304D
c.911T>A
1 paper
NM_000027.4
p.A303P
c.907G>C
4 papers
NM_000027.4
p.G302R
c.904G>C
6 papers
NM_000027.4
p.G302R
c.904G>A
2 papers
NM_000027.4
p.T310A
c.928A>G
1 paper
NM_000027.4
p.G314Splc
c.940+1G>A
1 paper
NM_000027.4
p.K295*
c.883A>T
1 paper
NM_000027.4
p.Q294*
c.880C>T
1 paper
NM_000027.4
p.I293F
c.877A>T
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."