Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.M26I

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.M26I
c.78G>T
Surrounding Variants
2 papers
NM_000026.4
p.M26I
c.78G>A
2 papers
NM_000026.4
p.M26I
c.78G>C
9 papers
NM_000026.4
p.M26L
c.76A>C
9 papers
NM_000026.4
p.M26L
c.76A>T
1 paper
NM_000026.4
p.E25insFs
c.75dupG
1 paper
NM_000026.4
p.E25A
c.74A>C
1 paper
NM_000026.4
p.E25K
c.73G>A
1 paper
NM_000026.4
p.E25*
c.73G>T
7 papers
NM_000026.4
p.P24L
c.71C>T
2 papers
NM_000026.4
p.P24A
c.70C>G
5 papers
NM_000026.4
p.S23R
c.69C>A
5 papers
NM_000026.4
p.S23R
c.69C>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."