Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.R303C

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
19 papers
NM_000026.4
p.R303C
c.907C>T
Surrounding Variants
1 paper
NM_000026.4
p.C304R
c.910T>C
1 paper
NM_000026.4
p.S306G
c.916A>G
1 paper
NM_000026.4
p.R300C
c.898C>T
1 paper
NM_000026.4
p.M299T
c.896T>C
1 paper
NM_000026.4
p.M299V
c.895A>G
1 paper
NM_000026.4
p.P298S
c.892C>T
1 paper
NM_000026.4
p.A308T
c.922G>A
2 papers
NM_000026.4
p.N297S
c.890A>G
5 papers
NM_000026.4
p.R309H
c.926G>A
2 papers
NM_000026.4
p.N297ins0
c.889_891dupAAT
2 papers
NM_000026.4
p.R296Q
c.887G>A
2 papers
NM_000026.4
p.R296W
c.886C>T
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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."