Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.D117Y

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.D117Y
c.349G>T
Surrounding Variants
1 paper
NM_000026.4
p.G116E
c.347G>A
1 paper
NM_000026.4
p.G116A
c.347G>C
1 paper
NM_000026.4
p.N118S
c.353A>G
1 paper
NM_000026.4
p.V115F
c.343G>T
1 paper
NM_000026.4
p.T119I
c.356C>T
23 papers
NM_000026.4
p.Y114H
c.340T>C
1 paper
NM_000026.4
p.Y114_V115insT
c.340_344ins3
1 paper
NM_000026.4
p.C113Y
c.338G>A
1 paper
NM_000026.4
p.C113R
c.337T>C
1 paper
NM_000026.4
p.C113_Y114insA
c.337_341ins3
1 paper
NM_000026.4
p.S112P
c.334T>C
3 papers
NM_000026.4
p.A110S
c.328G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."