Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.A206S

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.A206S
c.616G>T
Surrounding Variants
1 paper
NM_000026.4
p.Q205R
c.614A>G
1 paper
NM_000026.4
p.A206A
c.618C>A
1 paper
NM_000026.4
p.T204S
c.611C>G
1 paper
NM_000026.4
p.T204S
c.610A>T
1 paper
NM_000026.4
p.F208_G214delFs
c.623_642del20
1 paper
NM_000026.4
p.F208Y
c.623T>A
1 paper
NM_000026.4
p.L209fs
c.625_626fs
1 paper
NM_000026.4
p.L211_D216delFs
c.631_647del17
1 paper
NM_000026.4
p.L211H
c.632T>A
1 paper
NM_000026.4
p.G200V
c.599G>T
1 paper
NM_000026.4
p.K199K
c.597G>A
1 paper
NM_000026.4
p.D215N
c.643G>A
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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."