Varaico: Literature-Extracted Genetic Variants

Gene:AGA
Variant:p.L146V

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.L146V
c.436T>G
Surrounding Variants
1 paper
NM_000027.4
p.L146L
c.436T>C
1 paper
NM_000027.4
p.L146L
c.438A>G
1 paper
NM_000027.4
p.D145A
c.434A>C
1 paper
NM_000027.4
p.S147_T148ins9
c.439_443ins27
3 papers
NM_000027.4
p.S147P
c.439T>C
1 paper
NM_000027.4
p.N143I
c.428A>T
4 papers
NM_000027.4
p.T149S
c.445A>T
6 papers
NM_000027.4
p.T149S
c.446C>G
1 paper
NM_000027.4
p.F141insFs
c.421_422insG
1 paper
NM_000027.4
p.G140E
c.419G>A
1 paper
NM_000027.4
p.G140R
c.418G>C
1 paper
NM_000027.4
p.S151delFs
c.453delA
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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."