Varaico: Literature-Extracted Genetic Variants

Gene:ASL

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
1–12 of 358 variants
38 papers
NM_000048.4
p.Q286R
c.857A>G
19 papers
NM_000048.4
p.R12Q
c.35G>A
18 papers
NM_000048.4
p.R385C
c.1153C>T
17 papers
NM_000048.4
p.V178M
c.532G>A
14 papers
NM_000048.4
p.R379C
c.1135C>T
13 papers
NM_000048.4
p.D87G
c.260A>G
13 papers
NM_000048.4
p.R113W
c.337C>T
12 papers
NM_000048.4
p.R95C
c.283C>T
11 papers
NM_000048.4
p.E189G
c.566A>G
10 papers
NM_000048.4
p.Q116*
c.346C>T
10 papers
NM_000048.4
p.R182*
c.544C>T
10 papers
NM_000048.4
p.R193Q
c.578G>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."