Varaico: Literature-Extracted Genetic Variants

Gene:ASL
Variant:p.S201Splc

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
1 paper
NM_000048.4
p.S201Splc
c.602+1G>A
Surrounding Variants
1 paper
NM_000048.4
p.G200V
c.599G>T
1 paper
NM_000048.4
p.L199V
c.595C>G
1 paper
NM_000048.4
p.P198L
c.593C>T
1 paper
NM_000048.4
p.N195delFs
c.584_585delAT
1 paper
NM_000048.4
p.N195fs
c.583_584fs
10 papers
NM_000048.4
p.R193Q
c.578G>A
4 papers
NM_000048.4
p.R193W
c.577C>T
1 paper
NM_000048.4
p.R191Q
c.572G>A
2 papers
NM_000048.4
p.R191W
c.571C>T
11 papers
NM_000048.4
p.E189G
c.566A>G
1 paper
NM_000048.4
p.L187fs
c.559_560fs
9 papers
NM_000048.4
p.R186Q
c.557G>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."