Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.Q118E

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.Q118E
c.352C>G
Surrounding Variants
1 paper
NM_001393989.1
p.Q118L
c.353A>T
1 paper
NM_001393989.1
p.Q117H
c.351A>T
1 paper
NM_001393989.1
p.Q117_Q118insFs
c.351_352ins4
1 paper
NM_001393989.1
p.Q118H
c.354G>T
2 papers
NM_001393989.1
p.Q117K
c.349C>A
1 paper
NM_001393989.1
p.G119V
c.356G>T
1 paper
NM_001393989.1
p.G119insFs
c.356_357ins4
1 paper
NM_001393989.1
p.G119E
c.356G>A
2 papers
NM_001393989.1
p.P116L
c.347C>T
1 paper
NM_001393989.1
p.P116H
c.347C>A
1 paper
NM_001393989.1
p.G119G
c.357A>T
2 papers
NM_001393989.1
p.G120R
c.358G>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."