Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.T154_G156delFs

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.T154_G156delFs
c.460_467del8
Surrounding Variants
1 paper
NM_000026.4
p.S151G
c.451A>G
1 paper
NM_000026.4
p.F157S
c.470T>C
3 papers
NM_000026.4
p.R149G
c.445C>G
1 paper
NM_000026.4
p.H159N
c.475C>A
1 paper
NM_000026.4
p.K147M
c.440A>T
1 paper
NM_000026.4
p.A143A
c.429C>G
1 paper
NM_000026.4
p.Q161Splc
c.482+8A>G
1 paper
NM_000026.4
p.R141Q
c.422G>A
13 papers
NM_000026.4
p.R141W
c.421C>T
1 paper
NM_000026.4
p.S140A
c.418T>G
1 paper
NM_000026.4
p.I139S
c.416T>G
1 paper
NM_000026.4
p.A136V
c.407C>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."