Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.Q109H

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
3 papers
NM_001393989.1
p.Q109H
c.327G>C
Surrounding Variants
2 papers
NM_001393989.1
p.Q109Q
c.327G>A
1 paper
NM_001393989.1
p.G110R
c.328G>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.P108R
c.323C>G
1 paper
NM_001393989.1
p.P108A
c.322C>G
2 papers
NM_001393989.1
p.P108insFs
c.322_323insGT
1 paper
NM_001393989.1
p.G104_P108delins
c.312_322delinsAT
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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."