Varaico: Literature-Extracted Genetic Variants

Gene:PRPS1

PRPS1

177 papers

RefSeq Summary

This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defe...

Pfam Domains

Pribosyltran_Naa 4–120UCSCN-terminal domain of ribose phosphate pyrophosphokinase
Pribosyl_synthaa 197–314UCSCPhosphoribosyl synthetase-associated domain

Gene Aliases

HGNC Name

phosphoribosyl pyrophosphate synthetase 1

HGNC Previous Symbol

DFN2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 163 variants
20 papers
NM_002764.4
p.M115T
c.344T>C
18 papers
NM_002764.4
p.A87T
c.259G>A
17 papers
NM_002764.4
p.E43D
c.129A>C
17 papers
NM_002764.4
p.D65N
c.193G>A
17 papers
NM_002764.4
p.Q133P
c.398A>C
16 papers
NM_002764.4
p.I290T
c.869T>C
16 papers
NM_002764.4
p.G306R
c.916G>A
15 papers
NM_002764.4
p.E43D
c.129A>T
15 papers
NM_002764.4
p.D52H
c.154G>C
14 papers
NM_002764.4
p.L152P
c.455T>C
13 papers
NM_002764.4
p.V142L
c.424G>C
13 papers
NM_002764.4
p.V142L
c.424G>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."