Varaico: Literature-Extracted Genetic Variants

Gene:ASL
Variant:p.E189G

ASL

224 papers

RefSeq Summary

This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and f...

Pfam Domains

Lyase_1aa 11–305UCSCLyase
ASL_C2aa 367–435UCSCArgininosuccinate lyase C-terminal

Gene Aliases

HGNC Name

argininosuccinate lyase

HGNC Alias Symbol

ASAL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_000048.4
p.E189G
c.566A>G
Surrounding Variants
2 papers
NM_000048.4
p.R191W
c.571C>T
1 paper
NM_000048.4
p.R191Q
c.572G>A
1 paper
NM_000048.4
p.L187fs
c.559_560fs
9 papers
NM_000048.4
p.R186Q
c.557G>A
6 papers
NM_000048.4
p.R186W
c.556C>T
4 papers
NM_000048.4
p.R193W
c.577C>T
10 papers
NM_000048.4
p.R193Q
c.578G>A
1 paper
NM_000048.4
p.S184delFs
c.551delC
1 paper
NM_000048.4
p.N195delFs
c.584_585delAT
1 paper
NM_000048.4
p.N195fs
c.583_584fs
3 papers
NM_000048.4
p.S184delFs
c.551_552delCT
9 papers
NM_000048.4
p.R182Q
c.545G>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."