Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.G183R

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
2 papers
NM_001393989.1
p.G183R
c.547G>A
Surrounding Variants
2 papers
NM_001393989.1
p.G183R
c.547G>C
1 paper
NM_001393989.1
p.G183V
c.548G>T
1 paper
NM_001393989.1
p.G183A
c.548G>C
1 paper
NM_001393989.1
p.Q184insFs
c.550dupC
1 paper
NM_001393989.1
p.Q184H
c.552G>T
1 paper
NM_001393989.1
p.Q184ins1
c.551_552insAAT
1 paper
NM_001393989.1
p.Q184H
c.552G>C
1 paper
NM_001393989.1
p.P181L
c.542C>T
2 papers
NM_001393989.1
p.P181T
c.541C>A
1 paper
NM_001393989.1
p.P180L
c.539C>T
1 paper
NM_001393989.1
p.P180R
c.539C>G
1 paper
NM_001393989.1
p.P186S
c.556C>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."