Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.Q135delFs

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.Q135delFs
c.404delT
Surrounding Variants
1 paper
NM_001393989.1
p.Q135H
c.405G>T
1 paper
NM_001393989.1
p.Q135H
c.405G>C
1 paper
NM_001393989.1
p.G136A
c.407G>C
1 paper
NM_001393989.1
p.G131_Q134del4
c.391_401del12
2 papers
NM_001393989.1
p.G137R
c.409G>C
1 paper
NM_001393989.1
p.Q134L
c.401A>T
1 paper
NM_001393989.1
p.Q134insFs
c.401_402insC
1 paper
NM_001393989.1
p.G137V
c.410G>T
1 paper
NM_001393989.1
p.H138Y
c.412C>T
1 paper
NM_001393989.1
p.P133insFs
c.398_399insG
1 paper
NM_001393989.1
p.P132insFs
c.396dupA
1 paper
NM_001393989.1
p.P133fs
c.397_398fs
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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."