Varaico: Literature-Extracted Genetic Variants

Gene:AGA
Variant:p.T122K

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.T122K
c.365C>A
Surrounding Variants
1 paper
NM_000027.4
p.T122fs
c.364_365fs
2 papers
NM_000027.4
p.T123fs
c.367_368fs
1 paper
NM_000027.4
p.T122_T123delFs
c.364_367del4
1 paper
NM_000027.4
p.H121Y
c.361C>T
1 paper
NM_000027.4
p.H124R
c.371A>G
4 papers
NM_000027.4
p.T123_H124delFs
c.367_371del5
2 papers
NM_000027.4
p.T125A
c.373A>G
1 paper
NM_000027.4
p.H124_T125delFs
c.372_375del4
2 papers
NM_000027.4
p.R116_K117del2
c.346_350del6
1 paper
NM_000027.4
p.L127_V128ins6
c.379_383ins18
1 paper
NM_000027.4
p.R116insFs
c.347_348insA
3 papers
NM_000027.4
p.R116W
c.346C>T
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