Varaico: Literature-Extracted Genetic Variants

Gene:AGA
Variant:p.C64delFs

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.C64delFs
c.192delA
Surrounding Variants
5 papers
NM_000027.4
p.C64*
c.192T>A
1 paper
NM_000027.4
p.C64S
c.191G>C
1 paper
NM_000027.4
p.C64S
c.190T>A
1 paper
NM_000027.4
p.M63T
c.188T>C
1 paper
NM_000027.4
p.M63K
c.188T>A
2 papers
NM_000027.4
p.E67*
c.199G>T
1 paper
NM_000027.4
p.E67K
c.199G>A
1 paper
NM_000027.4
p.A62A
c.186C>A
1 paper
NM_000027.4
p.E67A
c.200A>C
1 paper
NM_000027.4
p.G60_C61del2
c.178_182del6
3 papers
NM_000027.4
p.E67delFs
c.199_200delTC
1 paper
NM_000027.4
p.C61W
c.183T>G
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