Varaico: Literature-Extracted Genetic Variants

Gene:ASL
Variant:p.R111W

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
6 papers
NM_000048.4
p.R111W
c.331C>T
Surrounding Variants
2 papers
NM_000048.4
p.R111Q
c.332G>A
1 paper
NM_000048.4
p.G110R
c.328G>C
4 papers
NM_000048.4
p.G110*
c.328G>T
1 paper
NM_000048.4
p.T109R
c.326C>G
13 papers
NM_000048.4
p.R113W
c.337C>T
6 papers
NM_000048.4
p.R113Q
c.338G>A
1 paper
NM_000048.4
p.N114D
c.340A>G
1 paper
NM_000048.4
p.H108N
c.322C>A
1 paper
NM_000048.4
p.L107P
c.320T>C
2 papers
NM_000048.4
p.D115Y
c.343G>T
10 papers
NM_000048.4
p.Q116*
c.346C>T
1 paper
NM_000048.4
p.Q116R
c.347A>G
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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."