Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.G174W

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.G174W
c.520G>T
Surrounding Variants
1 paper
NM_001393989.1
p.G174_G175insT
c.520_524ins3
1 paper
NM_001393989.1
p.G174R
c.520G>C
1 paper
NM_001393989.1
p.G174R
c.520G>A
1 paper
NM_001393989.1
p.P172insFs
c.515dupC
1 paper
NM_001393989.1
p.G175_R176ins15
c.523_527ins45
1 paper
NM_001393989.1
p.G175R
c.523G>C
2 papers
NM_001393989.1
p.G175V
c.524G>T
1 paper
NM_001393989.1
p.G175A
c.524G>C
2 papers
NM_001393989.1
p.G175D
c.524G>A
1 paper
NM_001393989.1
p.P172P
c.516C>A
1 paper
NM_001393989.1
p.P172L
c.515C>T
1 paper
NM_001393989.1
p.P171_P172insFs
c.513_514insTC
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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."