Varaico: Literature-Extracted Genetic Variants

Gene:AGA
Variant:p.D70A

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.D70A
c.209A>C
Surrounding Variants
3 papers
NM_000027.4
p.G71R
c.211G>C
2 papers
NM_000027.4
p.G71S
c.211G>A
1 paper
NM_000027.4
p.C69S
c.206G>C
1 paper
NM_000027.4
p.C64_C69delFs
c.192_205del14
1 paper
NM_000027.4
p.C69R
c.205T>C
1 paper
NM_000027.4
p.C69S
c.205T>A
3 papers
NM_000027.4
p.S72A
c.214T>G
14 papers
NM_000027.4
p.S72P
c.214T>C
3 papers
NM_000027.4
p.E67delFs
c.199_200delTC
1 paper
NM_000027.4
p.E67A
c.200A>C
2 papers
NM_000027.4
p.E67*
c.199G>T
1 paper
NM_000027.4
p.E67K
c.199G>A
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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."