Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.Q96Q

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
2 papers
NM_001393989.1
p.Q96Q
c.288A>G
Surrounding Variants
2 papers
NM_001393989.1
p.Q97K
c.289C>A
1 paper
NM_001393989.1
p.P94_P95delFs
c.280_283del4
1 paper
NM_001393989.1
p.P95P
c.285C>G
1 paper
NM_001393989.1
p.P95P
c.285C>A
1 paper
NM_001393989.1
p.P95_Q97Fs
c.285_291delinsCTGTATFs
2 papers
NM_001393989.1
p.G98R
c.292G>C
2 papers
NM_001393989.1
p.G98R
c.292G>A
1 paper
NM_001393989.1
p.G98V
c.293G>T
1 paper
NM_001393989.1
p.G98E
c.293G>A
3 papers
NM_001393989.1
p.P95S
c.283C>T
3 papers
NM_001393989.1
p.P95A
c.283C>G
1 paper
NM_001393989.1
p.G98G
c.294A>C
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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."