Varaico: Literature-Extracted Genetic Variants

Gene:ASL
Variant:p.K97_E98Splc

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.K97_E98Splc
c.291+1G>T
Surrounding Variants
1 paper
NM_000048.4
p.R95H
c.284G>A
2 papers
NM_000048.4
p.R95S
c.283C>A
12 papers
NM_000048.4
p.R95C
c.283C>T
1 paper
NM_000048.4
p.R94H
c.281G>A
1 paper
NM_000048.4
p.R94L
c.281G>T
1 paper
NM_000048.4
p.R94S
c.280C>A
5 papers
NM_000048.4
p.R94C
c.280C>T
1 paper
NM_000048.4
p.A91V
c.272C>T
1 paper
NM_000048.4
p.T90I
c.269C>T
3 papers
NM_000048.4
p.H89Q
c.267C>A
3 papers
NM_000048.4
p.H89Q
c.267C>G
1 paper
NM_000048.4
p.H89R
c.266A>G
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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."