Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.D215N

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
1 paper
NM_000026.4
p.D215N
c.643G>A
Surrounding Variants
4 papers
NM_000026.4
p.D215H
c.643G>C
1 paper
NM_000026.4
p.H217D
c.649C>G
4 papers
NM_000026.4
p.H217Y
c.649C>T
1 paper
NM_000026.4
p.L211H
c.632T>A
1 paper
NM_000026.4
p.K218_V219Splc
c.654+1G>A
1 paper
NM_000026.4
p.L211_D216delFs
c.631_647del17
1 paper
NM_000026.4
p.L209fs
c.625_626fs
1 paper
NM_000026.4
p.F208Y
c.623T>A
1 paper
NM_000026.4
p.F208_G214delFs
c.623_642del20
1 paper
NM_000026.4
p.A206A
c.618C>A
2 papers
NM_000026.4
p.A206S
c.616G>T
1 paper
NM_000026.4
p.Q205R
c.614A>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."