Varaico: Literature-Extracted Genetic Variants

Gene:ADSS1

ADSS1

73 papers

RefSeq Summary

This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conve...

Pfam Domains

Adenylsucc_syntaa 35–454UCSCAdenylosuccinate synthetase

Gene Aliases

HGNC Name

adenylosuccinate synthase 1

HGNC Previous Symbol

ADSSL1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 127 variants
12 papers
NM_152328.5
p.D261N
c.781G>A
9 papers
NM_152328.5
p.I307delFs
c.919delA
4 papers
NM_152328.5
p.M1L
c.1A>C
4 papers
NM_152328.5
p.M1L
c.1A>T
4 papers
NM_152328.5
p.P247delFs
c.741delC
4 papers
NM_152328.5
p.G265E
c.794G>A
4 papers
NM_152328.5
p.Q323*
c.967C>T
3 papers
NM_152328.5
p.R233*
c.697C>T
3 papers
NM_152328.5
p.P247_K248insFs
c.741_742insC
3 papers
NM_199165.2
p.D304N
c.910G>A
3 papers
NM_152328.5
p.G265E
c.794G>A
2 papers
NM_152328.5
p.A257T
c.769G>A
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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."