Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.D398N

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.D398N
c.1192G>A
Surrounding Variants
1 paper
NM_000026.4
p.R404_V405delFs
c.1212_1213delAG
1 paper
NM_000026.4
p.R404fs
c.1210_1211fs
1 paper
NM_000026.4
p.R404T
c.1211G>C
1 paper
NM_000026.4
p.R404S
c.1212A>C
1 paper
NM_000026.4
p.R404S
c.1212A>T
1 paper
NM_000026.4
p.Q408*
c.1222C>T
1 paper
NM_000026.4
p.A411T
c.1231G>A
1 paper
NM_000026.4
p.V414D
c.1241T>A
1 paper
NM_000026.4
p.K415delFs
c.1244_1245delAG
1 paper
NM_000026.4
p.K415fs
c.1243_1244fs
1 paper
NM_000026.4
p.E417G
c.1250A>G
1 paper
NM_000026.4
p.G419delFs
c.1255_1256delGG
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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."