Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.R371Q

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
3 papers
NM_000026.4
p.R371Q
c.1112G>A
Surrounding Variants
1 paper
NM_000026.4
p.R371W
c.1111C>T
1 paper
NM_000026.4
p.R372S
c.1114C>A
1 paper
NM_000026.4
p.R372H
c.1115G>A
1 paper
NM_000026.4
p.E370K
c.1108G>A
1 paper
NM_000026.4
p.I369T
c.1106T>C
1 paper
NM_000026.4
p.I373T
c.1118T>C
2 papers
NM_000026.4
p.I369L
c.1105A>C
5 papers
NM_000026.4
p.R374W
c.1120C>T
2 papers
NM_000026.4
p.R374Q
c.1121G>A
1 paper
NM_000026.4
p.R374insFs
c.1121_1122insC
1 paper
NM_000026.4
p.Q375_E376delFs
c.1123_1126del4
1 paper
NM_000026.4
p.Q375*
c.1123C>T
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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."