Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.Q75*

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.Q75*
c.223C>T
Surrounding Variants
2 papers
NM_001393989.1
p.Q75L
c.224A>T
1 paper
NM_001393989.1
p.Q75R
c.224A>G
1 paper
NM_001393989.1
p.Q75P
c.224A>C
2 papers
NM_001393989.1
p.P74L
c.221C>T
1 paper
NM_001393989.1
p.P74insFs
c.221_222ins5
1 paper
NM_001393989.1
p.P74H
c.221C>A
1 paper
NM_001393989.1
p.P74S
c.220C>T
1 paper
NM_001393989.1
p.P74A
c.220C>G
1 paper
NM_001393989.1
p.Q75insFs
c.224dupA
1 paper
NM_001393989.1
p.Q76K
c.226C>A
1 paper
NM_001393989.1
p.P74T
c.220C>A
1 paper
NM_001393989.1
p.Q76L
c.227A>T
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