Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.Q147*

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.Q147*
c.439C>T
Surrounding Variants
1 paper
NM_001393989.1
p.Q147L
c.440A>T
2 papers
NM_001393989.1
p.P146P
c.438A>G
2 papers
NM_001393989.1
p.Q147P
c.440A>C
1 paper
NM_001393989.1
p.Q147Q
c.441A>G
3 papers
NM_001393989.1
p.G148R
c.442G>C
1 paper
NM_001393989.1
p.G148R
c.442G>A
1 paper
NM_001393989.1
p.Q147delFs
c.440delT
1 paper
NM_001393989.1
p.R143_Q147del5
c.427_440del15
1 paper
NM_001393989.1
p.P146S
c.436C>T
1 paper
NM_001393989.1
p.P146A
c.436C>G
1 paper
NM_001393989.1
p.P146T
c.436C>A
1 paper
NM_001393989.1
p.R145K
c.434G>A
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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."