Varaico: Literature-Extracted Genetic Variants

Gene:PPAT
Variant:p.S47G

PPAT

94 papers

RefSeq Summary

The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. It is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide ...

Pfam Domains

GATase_6aa 71–215UCSCGlutamine amidotransferase domain
Pribosyltranaa 328–419UCSCPhosphoribosyl transferase domain

Gene Aliases

HGNC Name

phosphoribosyl pyrophosphate amidotransferase

HGNC Alias Symbol

PRAT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002703.5
p.S47G
c.139A>G
Surrounding Variants
1 paper
NM_002703.5
p.E46G
c.137A>G
1 paper
NM_002703.5
p.V51A
c.152T>C
1 paper
NM_002703.5
p.V51E
c.152T>A
1 paper
NM_002703.5
p.T52A
c.154A>G
2 papers
NM_002703.5
p.G55A
c.164G>C
1 paper
NM_002703.5
p.K65_G66Splc
c.195+57G>A
1 paper
NM_002703.5
p.N71D
c.211A>G
1 paper
NM_002703.5
p.F74L
c.220T>C
1 paper
NM_002703.5
p.F74F
c.222T>C
1 paper
NM_002703.5
p.T75I
c.224C>T
1 paper
NM_002703.5
p.Y83S
c.248A>C
1 paper
NM_002703.5
p.L87F
c.259C>T
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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."