Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.R190Q

ADSL

299 papers

RefSeq Summary

The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic p...

Pfam Domains

Lyase_1aa 23–313UCSCLyase
ADSL_Caa 378–460UCSCAdenylosuccinate lyase C-terminus

Gene Aliases

HGNC Name

adenylosuccinate lyase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
13 papers
NM_000026.4
p.R190Q
c.569G>A
Surrounding Variants
4 papers
NM_000026.4
p.R190*
c.568C>T
1 paper
NM_000026.4
p.V189I
c.565G>A
2 papers
NM_000026.4
p.R188H
c.563G>A
2 papers
NM_000026.4
p.L193L
c.577C>T
1 paper
NM_000026.4
p.L193P
c.578T>C
7 papers
NM_000026.4
p.R194C
c.580C>T
1 paper
NM_000026.4
p.R194H
c.581G>A
2 papers
NM_000026.4
p.R196W
c.586C>T
1 paper
NM_000026.4
p.Q184*
c.550C>T
1 paper
NM_000026.4
p.D182H
c.544G>C
1 paper
NM_000026.4
p.M181L
c.541A>C
1 paper
NM_000026.4
p.M181V
c.541A>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."