Varaico: Literature-Extracted Genetic Variants

Gene:PNP
Variant:p.R234P

PNP

393 papers

RefSeq Summary

This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosp...

Pfam Domains

PNP_UDP_1aa 26–280UCSCPhosphorylase superfamily

Gene Aliases

HGNC Name

purine nucleoside phosphorylase

HGNC Previous Symbol

NP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
12 papers
NM_000270.4
p.R234P
c.701G>C
Surrounding Variants
1 paper
NM_000270.4
p.R234Q
c.701G>A
2 papers
NM_000270.4
p.R234G
c.700C>G
7 papers
NM_000270.4
p.R234*
c.700C>T
1 paper
NM_000270.4
p.G232R
c.694G>A
1 paper
NM_000270.4
p.G232R
c.694G>C
1 paper
NM_000270.4
p.G237A
c.710G>C
1 paper
NM_000270.4
p.H230Q
c.690C>A
1 paper
NM_000270.4
p.H230Q
c.690C>G
1 paper
NM_000270.4
p.S239delFs
c.716delC
2 papers
NM_000270.4
p.R229Q
c.686G>A
2 papers
NM_000270.4
p.R229W
c.685C>T
1 paper
NM_000270.4
p.A228P
c.682G>C
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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."