Varaico: Literature-Extracted Genetic Variants

Gene:PRPSAP1
Variant:p.Q133P

PRPSAP1

15 papers

Pfam Domains

Pribosyltran_Naa 1–52UCSCN-terminal domain of ribose phosphate pyrophosphokinase
Pribosyl_synthaa 93–276UCSCPhosphoribosyl synthetase-associated domain

Gene Aliases

HGNC Name

phosphoribosyl pyrophosphate synthetase associated protein 1

HGNC Alias Symbol

PAP39

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002766.3
p.Q133P
c.398A>C
Surrounding Variants
1 paper
NM_002766.3
p.I160V
c.478A>G
1 paper
NM_002766.3
p.A182S
c.544G>T
2 papers
NM_002766.3
p.E193G
c.578A>G
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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."