Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.G110R

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.G110R
c.328G>A
Surrounding Variants
3 papers
NM_001393989.1
p.Q109H
c.327G>C
2 papers
NM_001393989.1
p.Q109Q
c.327G>A
1 paper
NM_001393989.1
p.Q109L
c.326A>T
1 paper
NM_001393989.1
p.Q109*
c.325C>T
1 paper
NM_001393989.1
p.Q109E
c.325C>G
1 paper
NM_001393989.1
p.Q109K
c.325C>A
1 paper
NM_001393989.1
p.P108insFs
c.323_324ins10
1 paper
NM_001393989.1
p.Q102_P108insFs
c.304_323dup20
1 paper
NM_001393989.1
p.K111R
c.332A>G
1 paper
NM_001393989.1
p.K111N
c.333G>C
1 paper
NM_001393989.1
p.K111K
c.333G>A
1 paper
NM_001393989.1
p.P108R
c.323C>G
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