Varaico: Literature-Extracted Genetic Variants

Gene:ASL
Variant:p.T90I

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.T90I
c.269C>T
Surrounding Variants
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
1 paper
NM_000048.4
p.A91V
c.272C>T
1 paper
NM_000048.4
p.H89N
c.265C>A
1 paper
NM_000048.4
p.H89D
c.265C>G
1 paper
NM_000048.4
p.D87E
c.261C>A
1 paper
NM_000048.4
p.D87E
c.261C>G
13 papers
NM_000048.4
p.D87G
c.260A>G
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.E86D
c.258G>C
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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."