Varaico: Literature-Extracted Genetic Variants

Gene:ADSS1
Variant:p.I307delFs

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
10 papers
NM_152328.5
p.I307delFs
c.919delA
NM_199165.2
p.I350delFs
c.1048delA
Surrounding Variants
3 papers
NM_199165.2
p.I350fs
c.1048_1049fs
NM_152328.5
p.I307fs
c.919_920fs
1 paper
NM_152328.5
p.G306_I307insAG
c.916_920ins6
1 paper
NM_152328.5
p.G308E
c.923G>A
1 paper
NM_152328.5
p.E313V
c.938A>T
2 papers
NM_152328.5
p.A300T
c.898G>A
1 paper
NM_152328.5
p.V297M
c.889G>A
1 paper
NM_152328.5
p.N316_E317Splc
c.948+1G>A
1 paper
NM_152328.5
p.N290delFs
c.870delC
1 paper
NM_152328.5
p.I286I
c.858C>T
1 paper
NM_152328.5
p.F269insFs
c.807dupT
4 papers
NM_152328.5
p.G265E
c.794G>A
1 paper
NM_152328.5
p.G265Splc
c.794-1G>C
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