Varaico: Literature-Extracted Genetic Variants

Gene:ASL
Variant:p.A390V

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.A390V
c.1169C>T
Surrounding Variants
3 papers
NM_000048.4
p.A390T
c.1168G>A
1 paper
NM_000048.4
p.H388Q
c.1164C>A
1 paper
NM_000048.4
p.H388Q
c.1164C>G
4 papers
NM_000048.4
p.R385H
c.1154G>A
3 papers
NM_000048.4
p.R385L
c.1154G>T
18 papers
NM_000048.4
p.R385C
c.1153C>T
1 paper
NM_000048.4
p.R385delins
c.1153_1155delinsAAA
10 papers
NM_000048.4
p.A398D
c.1193C>A
3 papers
NM_000048.4
p.M382R
c.1145T>G
1 paper
NM_000048.4
p.G381_M382Splc
c.1144-1G>A
2 papers
NM_000048.4
p.T400T
c.1200C>T
1 paper
NM_000048.4
p.G381_M382Splc
c.1144-9G>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."