Varaico: Literature-Extracted Genetic Variants

Gene:ASL
Variant:p.Q62*

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.Q62*
c.184C>T
Surrounding Variants
3 papers
NM_000048.4
p.E59K
c.175G>A
3 papers
NM_000048.4
p.K69R
c.206A>G
1 paper
NM_000048.4
p.K69K
c.207G>A
1 paper
NM_000048.4
p.L54H
c.161T>A
1 paper
NM_000048.4
p.K69_V70Splc
c.207+1G>C
1 paper
NM_000048.4
p.G53E
c.158G>A
1 paper
NM_000048.4
p.K51N
c.153G>C
1 paper
NM_000048.4
p.K51N
c.153G>T
1 paper
NM_000048.4
p.L49P
c.146T>C
2 papers
NM_000048.4
p.Y45N
c.133T>A
1 paper
NM_000048.4
p.A44V
c.131C>T
1 paper
NM_000048.4
p.A44_L49del0
c.132_146del15
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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."