Varaico: Literature-Extracted Genetic Variants

Gene:ASL
Variant:p.L34H

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.L34H
c.101T>A
Surrounding Variants
1 paper
NM_000048.4
p.H33Q
c.99C>A
1 paper
NM_000048.4
p.H33Q
c.99C>G
2 papers
NM_000048.4
p.E36delFs
c.107delA
2 papers
NM_000048.4
p.E36fs
c.106_107fs
1 paper
NM_000048.4
p.R32Q
c.95G>A
1 paper
NM_000048.4
p.R32W
c.94C>T
1 paper
NM_000048.4
p.V37L
c.109G>C
1 paper
NM_000048.4
p.V37L
c.109G>T
6 papers
NM_000048.4
p.D31N
c.91G>A
1 paper
NM_000048.4
p.Y30_R32delins
c.89_94delinsGTCGTA
1 paper
NM_000048.4
p.Q40L
c.119A>T
1 paper
NM_000048.4
p.N25insFs
c.75dupC
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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."