Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.Q82insFs

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.Q82insFs
c.244_245insG
Surrounding Variants
1 paper
NM_001393989.1
p.Q82*
c.244C>T
1 paper
NM_001393989.1
p.Q82K
c.244C>A
1 paper
NM_001393989.1
p.G78_Q81del0
c.234_242del9
2 papers
NM_001393989.1
p.Q82H
c.246A>T
1 paper
NM_001393989.1
p.Q81L
c.242A>T
2 papers
NM_001393989.1
p.Q81R
c.242A>G
1 paper
NM_001393989.1
p.G83C
c.247G>T
1 paper
NM_001393989.1
p.G83R
c.247G>C
3 papers
NM_001393989.1
p.G83S
c.247G>A
1 paper
NM_001393989.1
p.Q81*
c.241C>T
1 paper
NM_001393989.1
p.Q81E
c.241C>G
1 paper
NM_001393989.1
p.Q81K
c.241C>A
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."