Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.T450S

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
11 papers
NM_000026.4
p.T450S
c.1348A>T
Surrounding Variants
11 papers
NM_000026.4
p.T450S
c.1349C>G
1 paper
NM_000026.4
p.S448C
c.1343C>G
7 papers
NM_000026.4
p.S448P
c.1342T>C
2 papers
NM_000026.4
p.R452H
c.1355G>A
3 papers
NM_000026.4
p.R452P
c.1355G>C
1 paper
NM_000026.4
p.S447T
c.1339T>A
6 papers
NM_000026.4
p.S447P
c.1339T>C
1 paper
NM_000026.4
p.P446S
c.1336C>T
1 paper
NM_000026.4
p.S448del1
c.1342_1343delTCT
1 paper
NM_000026.4
p.L444L
c.1332G>A
1 paper
NM_000026.4
p.L444P
c.1331T>C
1 paper
NM_000026.4
p.Q456E
c.1366C>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."