Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.Q126*

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
4 papers
NM_001393989.1
p.Q126*
c.376C>T
Surrounding Variants
1 paper
NM_001393989.1
p.Q126K
c.376C>A
1 paper
NM_001393989.1
p.Q126L
c.377A>T
1 paper
NM_001393989.1
p.Q126R
c.377A>G
1 paper
NM_001393989.1
p.G127*
c.379G>T
1 paper
NM_001393989.1
p.P125insFs
c.373_374insA
1 paper
NM_001393989.1
p.P124P
c.372T>A
2 papers
NM_001393989.1
p.G127A
c.380G>C
2 papers
NM_001393989.1
p.G127E
c.380G>A
2 papers
NM_001393989.1
p.P124L
c.371C>T
1 paper
NM_001393989.1
p.P124R
c.371C>G
2 papers
NM_001393989.1
p.P124S
c.370C>T
1 paper
NM_001393989.1
p.R128W
c.382A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."