Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.P318L

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
6 papers
NM_000026.4
p.P318L
c.953C>T
Surrounding Variants
3 papers
NM_000026.4
p.M316T
c.947T>C
1 paper
NM_000026.4
p.M316delFs
c.947delT
1 paper
NM_000026.4
p.A322E
c.965C>A
1 paper
NM_000026.4
p.V324I
c.970G>A
1 paper
NM_000026.4
p.Q325_W326delFs
c.973_976del4
5 papers
NM_000026.4
p.L311V
c.931C>G
2 papers
NM_000026.4
p.W326C
c.978G>C
5 papers
NM_000026.4
p.R309H
c.926G>A
1 paper
NM_000026.4
p.E328Q
c.982G>C
1 paper
NM_000026.4
p.E328*
c.982G>T
1 paper
NM_000026.4
p.A308T
c.922G>A
1 paper
NM_000026.4
p.S306G
c.916A>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."