Varaico: Literature-Extracted Genetic Variants

Gene:ADSL
Variant:p.L258_K264del0

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.L258_K264del0
c.773_790del18
Surrounding Variants
1 paper
NM_000026.4
p.L258delFs
c.774delG
2 papers
NM_000026.4
p.S257G
c.769A>G
2 papers
NM_000026.4
p.A260T
c.778G>A
1 paper
NM_000026.4
p.A260fs
c.778_779fs
1 paper
NM_000026.4
p.A260V
c.779C>T
1 paper
NM_000026.4
p.L255insFs
c.765dupG
1 paper
NM_000026.4
p.K246R
c.737A>G
12 papers
NM_000026.4
p.K246E
c.736A>G
1 paper
NM_000026.4
p.R245R
c.735A>T
2 papers
NM_000026.4
p.R245Q
c.734G>A
3 papers
NM_000026.4
p.T242I
c.725C>T
1 paper
NM_000026.4
p.I237V
c.709A>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."