Varaico: Literature-Extracted Genetic Variants

Gene:ADSL

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
1–12 of 358 variants
52 papers
NM_000026.4
p.R426H
c.1277G>A
23 papers
NM_000026.4
p.Y114H
c.340T>C
21 papers
NM_000026.4
p.Q286R
c.857A>G
19 papers
NM_000026.4
p.R303C
c.907C>T
13 papers
NM_000026.4
p.R141W
c.421C>T
13 papers
NM_000026.4
p.R190Q
c.569G>A
12 papers
NM_000026.4
p.K246E
c.736A>G
12 papers
NM_000026.4
p.R396H
c.1187G>A
12 papers
NM_000026.4
p.D430N
c.1288G>A
11 papers
NM_000026.4
p.T450S
c.1348A>T
11 papers
NM_000026.4
p.T450S
c.1349C>G
9 papers
NM_000026.4
p.M26L
c.76A>C
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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."