Varaico: Literature-Extracted Genetic Variants

Gene:ADSS1
Variant:p.R10_P12delFs

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
Selected Variant
1 paper
NM_152328.5
p.R10_P12delFs
c.29_36del8
Surrounding Variants
1 paper
NM_152328.5
p.D9ins5
c.25_26ins15
1 paper
NM_152328.5
p.P12delFs
c.36delC
1 paper
NM_152328.5
p.G13C
c.37G>T
1 paper
NM_152328.5
p.G13fs
c.37_38fs
1 paper
NM_152328.5
p.G13D
c.38G>A
1 paper
NM_152328.5
p.A14T
c.40G>A
1 paper
NM_152328.5
p.G15S
c.43G>A
1 paper
NM_152328.5
p.S2S
c.6G>A
4 papers
NM_152328.5
p.M1L
c.1A>C
4 papers
NM_152328.5
p.M1L
c.1A>T
1 paper
NM_152328.5
p.G20G
c.60G>A
1 paper
NM_152328.5
p.L22_A27delFs
c.66_81del16
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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."