Varaico: Literature-Extracted Genetic Variants

Gene:ADSS1
Variant:p.M345R

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.M345R
c.1034T>G
Surrounding Variants
1 paper
NM_152328.5
p.A350delFs
c.1048delG
1 paper
NM_152328.5
p.K336N
c.1008G>C
1 paper
NM_152328.5
p.A358Splc
c.1073+1G>A
1 paper
NM_152328.5
p.W329*
c.987G>A
1 paper
NM_152328.5
p.W329*
c.986G>A
1 paper
NM_152328.5
p.W329delFs
c.985_986delTG
1 paper
NM_152328.5
p.R325insFs
c.974dupG
4 papers
NM_152328.5
p.Q323*
c.967C>T
1 paper
NM_199165.2
p.Q366_R368del3
c.1096_1103del9
1 paper
NM_152328.5
p.N316_E317Splc
c.948+1G>A
1 paper
NM_152328.5
p.E313V
c.938A>T
1 paper
NM_152328.5
p.G308E
c.923G>A
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