Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.R396H

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
12 papers
NM_000026.4
p.R396H
c.1187G>A
Surrounding Variants
7 papers
NM_000026.4
p.R396C
c.1186C>T
9 papers
NM_000026.4
p.S395R
c.1185C>A
9 papers
NM_000026.4
p.S395R
c.1185C>G
1 paper
NM_000026.4
p.Q397*
c.1189C>T
9 papers
NM_000026.4
p.S395R
c.1183A>C
1 paper
NM_000026.4
p.Q397_D398Splc
c.1191+1G>A
1 paper
NM_000026.4
p.G394S
c.1180G>A
1 paper
NM_000026.4
p.G393E
c.1178G>A
4 papers
NM_000026.4
p.Q397_D398Splc
c.1191+5G>C
1 paper
NM_000026.4
p.A392P
c.1174G>C
1 paper
NM_000026.4
p.V390I
c.1168G>A
1 paper
NM_000026.4
p.M389V
c.1165A>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."