Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.D22Splc

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.D22Splc
c.65-2A>C
Surrounding Variants
3 papers
NM_001393989.1
p.D22Splc
c.65-1G>C
1 paper
NM_001393989.1
p.D22G
c.65A>G
2 papers
NM_001393989.1
p.D22D
c.66T>C
2 papers
NM_001393989.1
p.D22E
c.66T>A
1 paper
NM_001393989.1
p.V23L
c.67G>C
1 paper
NM_001393989.1
p.V23I
c.67G>A
2 papers
NM_001393989.1
p.V23D
c.68T>A
1 paper
NM_001393989.1
p.V23V
c.69C>G
1 paper
NM_001393989.1
p.V23V
c.69C>A
2 papers
NM_001393989.1
p.S24G
c.70A>G
3 papers
NM_001393989.1
p.S24N
c.71G>A
1 paper
NM_001393989.1
p.S24S
c.72C>T
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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."