Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.R128R

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
6 papers
NM_001393989.1
p.R128R
c.384G>A
Surrounding Variants
2 papers
NM_001393989.1
p.R128K
c.383G>A
1 paper
NM_001393989.1
p.P129S
c.385C>T
1 paper
NM_001393989.1
p.P129A
c.385C>G
1 paper
NM_001393989.1
p.R128W
c.382A>T
1 paper
NM_001393989.1
p.G127_R128ins1
c.381_382insATC
2 papers
NM_001393989.1
p.G127A
c.380G>C
2 papers
NM_001393989.1
p.G127E
c.380G>A
1 paper
NM_001393989.1
p.G127*
c.379G>T
1 paper
NM_001393989.1
p.Q130R
c.389A>G
1 paper
NM_001393989.1
p.Q130H
c.390A>T
1 paper
NM_001393989.1
p.Q130Q
c.390A>G
1 paper
NM_001393989.1
p.Q130H
c.390A>C
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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."