Varaico: Literature-Extracted Genetic Variants

Gene:ADSS2
Variant:p.V72M

ADSS2

20 papers

RefSeq Summary

This gene encodes the enzyme adenylosuccinate synthetase which catalyzes the first committed step in the conversion of inosine monophosphate to adenosine monophosphate. A pseudogene of this gene is fo...

Pfam Domains

Adenylsucc_syntaa 32–453UCSCAdenylosuccinate synthetase

Gene Aliases

HGNC Name

adenylosuccinate synthase 2

HGNC Previous Name

adenylosuccinate synthase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001126.5
p.V72M
c.214G>A
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