Varaico: Literature-Extracted Genetic Variants

Gene:PRH1

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
1–12 of 728 variants
33 papers
NM_001393989.1
p.D18V
c.53A>T
13 papers
NM_001393989.1
p.G93A
c.278G>C
12 papers
NM_001393989.1
p.M1I
c.3G>A
11 papers
NM_001393989.1
p.D27N
c.79G>A
10 papers
NM_001393989.1
p.M1V
c.1A>G
10 papers
NM_001393989.1
p.G89G
c.267A>T
9 papers
NM_001393989.1
p.L42I
c.124C>A
8 papers
NM_001393989.1
p.Q57H
c.171A>T
6 papers
NM_001393989.1
p.E39A
c.116A>C
6 papers
NM_001393989.1
p.P73L
c.218C>T
6 papers
NM_001393989.1
p.R128R
c.384G>A
5 papers
NM_001393989.1
p.M1T
c.2T>C
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."