Varaico: Literature-Extracted Genetic Variants

Gene:ASL
Variant:p.L373P

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.L373P
c.1118T>C
Surrounding Variants
1 paper
NM_000048.4
p.A374insFs
c.1121_1122insC
1 paper
NM_000048.4
p.Y375fs
c.1123_1124fs
1 paper
NM_000048.4
p.Y375C
c.1124A>G
1 paper
NM_000048.4
p.Y376*
c.1128C>A
1 paper
NM_000048.4
p.Y376*
c.1128C>G
1 paper
NM_000048.4
p.M368V
c.1102A>G
14 papers
NM_000048.4
p.R379C
c.1135C>T
1 paper
NM_000048.4
p.K380delFs
c.1139delA
1 paper
NM_000048.4
p.K380E
c.1138A>G
2 papers
NM_000048.4
p.G381_M382Splc
c.1143+1G>T
1 paper
NM_000048.4
p.G381_M382Splc
c.1143+5G>A
1 paper
NM_000048.4
p.Q362*
c.1084C>T
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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."