Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.G104R

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.G104R
c.310G>C
Surrounding Variants
2 papers
NM_001393989.1
p.G104D
c.311G>A
1 paper
NM_001393989.1
p.Q103H
c.309A>T
1 paper
NM_001393989.1
p.Q103_G104insFs
c.309_310insT
1 paper
NM_001393989.1
p.G104G
c.312T>A
1 paper
NM_001393989.1
p.G104delFs
c.310delC
2 papers
NM_001393989.1
p.Q103R
c.308A>G
1 paper
NM_001393989.1
p.P105T
c.313C>A
1 paper
NM_001393989.1
p.P105L
c.314C>T
1 paper
NM_001393989.1
p.P105Q
c.314C>A
1 paper
NM_001393989.1
p.Q102Q
c.306A>G
4 papers
NM_001393989.1
p.P105P
c.315A>T
1 paper
NM_001393989.1
p.P105_P106insFs
c.315_316insC
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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."