Varaico: Literature-Extracted Genetic Variants

Gene:PRPSAP1

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
2 papers
NM_002766.3
p.E193G
c.578A>G
1 paper
NM_002766.3
p.P10P
c.30G>A
1 paper
NM_002766.3
p.A33T
c.97G>A
1 paper
NM_002766.3
p.A33delFs
c.97delC
1 paper
NM_002766.3
p.R38R
c.112C>A
1 paper
NM_002766.3
p.E79*
c.235G>T
1 paper
NM_002766.3
p.Q133P
c.398A>C
1 paper
NM_002766.3
p.I160V
c.478A>G
1 paper
NM_002766.3
p.A182S
c.544G>T
1 paper
NM_002766.3
p.E303K
c.907G>A
1 paper
NM_002766.3
p.Q348Q
c.1044A>G
1 paper
NM_002766.3
p.G371V
c.1112G>T
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