Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.R270H

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.R270H
c.809G>A
Surrounding Variants
1 paper
NM_000026.4
p.R270C
c.808C>T
1 paper
NM_000026.4
p.R270fs
c.808_809fs
1 paper
NM_000026.4
p.I269insFs
c.807dupA
1 paper
NM_000026.4
p.I269V
c.805A>G
1 paper
NM_000026.4
p.L272insFs
c.814_815insA
1 paper
NM_000026.4
p.L272L
c.814C>T
8 papers
NM_000026.4
p.D268N
c.802G>A
5 papers
NM_000026.4
p.D268H
c.802G>C
1 paper
NM_000026.4
p.N274_E277del4
c.820_830del12
1 paper
NM_000026.4
p.K276E
c.826A>G
1 paper
NM_000026.4
p.E280delFs
c.839delA
1 paper
NM_000026.4
p.E280A
c.839A>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."