Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.P435L

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
2 papers
NM_000026.4
p.P435L
c.1304C>T
Surrounding Variants
1 paper
NM_000026.4
p.P435P
c.1305C>T
8 papers
NM_000026.4
p.S438P
c.1312T>C
2 papers
NM_000026.4
p.A431T
c.1291G>A
12 papers
NM_000026.4
p.D430N
c.1288G>A
1 paper
NM_000026.4
p.V429A
c.1286T>C
1 paper
NM_000026.4
p.I427V
c.1279A>G
52 papers
NM_000026.4
p.R426H
c.1277G>A
1 paper
NM_000026.4
p.L444P
c.1331T>C
1 paper
NM_000026.4
p.L444L
c.1332G>A
1 paper
NM_000026.4
p.E425*
c.1273G>T
1 paper
NM_000026.4
p.P446S
c.1336C>T
1 paper
NM_000026.4
p.S448del1
c.1342_1343delTCT
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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."