Varaico: Literature-Extracted Genetic Variants

Gene:ADSS1
Variant:p.G265E

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
3 papers
NM_152328.5
p.G265E
c.794G>A
Surrounding Variants
14 papers
NM_152328.5
p.D261N
c.781G>A
NM_199165.2
p.D304N
c.910G>A
1 paper
NM_199165.2
p.A301T
c.901G>A
2 papers
NM_152328.5
p.A257T
c.769G>A
1 paper
NM_152328.5
p.L251V
c.751C>G
1 paper
NM_152328.5
p.K249_V252delFs
c.746_755del10
1 paper
NM_152328.5
p.G245G
c.735C>T
3 papers
NM_152328.5
p.P247_K248insFs
c.741_742insC
4 papers
NM_152328.5
p.P247delFs
c.741delC
1 paper
NM_152328.5
p.G245fs
c.733_734fs
1 paper
NM_152328.5
p.Y237_M239delFs
c.711_715del5
3 papers
NM_152328.5
p.R233*
c.697C>T
1 paper
NM_152328.5
p.V232L
c.694G>C
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