Varaico: Literature-Extracted Genetic Variants

Gene:ADSS2
Variant:p.L395L

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.L395L
c.1183T>C
Surrounding Variants
1 paper
NM_001126.5
p.P406P
c.1218A>G
1 paper
NM_001126.5
p.A417A
c.1251G>A
1 paper
NM_001126.5
p.G382D
c.1145G>A
1 paper
NM_001126.5
p.D381H
c.1141G>C
1 paper
NM_001126.5
p.L341V
c.1021T>G
1 paper
NM_001126.5
p.V304I
c.910G>A
1 paper
NM_001126.5
p.E292V
c.875A>T
1 paper
NM_001126.5
p.P286S
c.856C>T
1 paper
NM_001126.5
p.L283V
c.847T>G
1 paper
NM_001126.5
p.K221_G222Splc
c.664-1G>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."