Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.G175R

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.G175R
c.523G>C
Surrounding Variants
1 paper
NM_001393989.1
p.G175_R176ins15
c.523_527ins45
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.G174W
c.520G>T
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
2 papers
NM_001393989.1
p.R176C
c.526C>T
1 paper
NM_001393989.1
p.R176G
c.526C>G
1 paper
NM_001393989.1
p.R176L
c.527G>T
1 paper
NM_001393989.1
p.R176P
c.527G>C
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