Varaico: Literature-Extracted Genetic Variants

Gene:ASL
Variant:p.R306W

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
2 papers
NM_000048.4
p.R306W
c.916C>T
Surrounding Variants
2 papers
NM_000048.4
p.G305R
c.913G>A
2 papers
NM_000048.4
p.G305R
c.913G>C
1 paper
NM_000048.4
p.F304L
c.910T>C
3 papers
NM_000048.4
p.R306_C307Splc
c.918+5G>A
1 paper
NM_000048.4
p.G301E
c.902G>A
4 papers
NM_000048.4
p.G301R
c.901G>A
3 papers
NM_000048.4
p.G301R
c.901G>C
2 papers
NM_000048.4
p.R297Q
c.890G>A
3 papers
NM_000048.4
p.R297W
c.889C>T
1 paper
NM_000048.4
p.L295P
c.884T>C
1 paper
NM_000048.4
p.K287N
c.861G>C
1 paper
NM_000048.4
p.K287N
c.861G>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."