Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.L19L

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
5 papers
NM_001393989.1
p.L19L
c.57A>G
Surrounding Variants
1 paper
NM_001393989.1
p.L19F
c.57A>T
1 paper
NM_001393989.1
p.L19S
c.56T>C
2 papers
NM_001393989.1
p.L19*
c.56T>A
1 paper
NM_001393989.1
p.N20D
c.58A>G
5 papers
NM_001393989.1
p.L19I
c.55T>A
1 paper
NM_001393989.1
p.N20_E21ins1
c.60_61insAGC
2 papers
NM_001393989.1
p.D18E
c.54T>A
1 paper
NM_001393989.1
p.N20K
c.60T>A
2 papers
NM_001393989.1
p.E21Q
c.61G>C
3 papers
NM_001393989.1
p.E21K
c.61G>A
33 papers
NM_001393989.1
p.D18V
c.53A>T
2 papers
NM_001393989.1
p.D18G
c.53A>G
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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."