Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.P139S

PRH1

3,069 papers

RefSeq Summary

This gene encodes a member of the heterogeneous family of proline-rich salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before...

Pfam Domains

Pro-richaa 1–128UCSCProline-rich protein
Pro-richaa 1–166UCSCProline-rich protein
Pro-richaa 1–166UCSCProline-rich protein

Gene Aliases

HGNC Name

proline rich protein HaeIII subfamily 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001393989.1
p.P139S
c.415C>T
Surrounding Variants
1 paper
NM_001393989.1
p.P139T
c.415C>A
1 paper
NM_001393989.1
p.H138Q
c.414T>A
1 paper
NM_001393989.1
p.P139L
c.416C>T
1 paper
NM_001393989.1
p.P139R
c.416C>G
1 paper
NM_001393989.1
p.P139P
c.417C>A
2 papers
NM_001393989.1
p.R140C
c.418C>T
1 paper
NM_001393989.1
p.H138Y
c.412C>T
2 papers
NM_001393989.1
p.R140G
c.418C>G
1 paper
NM_001393989.1
p.R140S
c.418C>A
1 paper
NM_001393989.1
p.G137V
c.410G>T
2 papers
NM_001393989.1
p.G137R
c.409G>C
1 paper
NM_001393989.1
p.P141S
c.421C>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."