Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.Q80E

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.Q80E
c.238C>G
Surrounding Variants
1 paper
NM_001393989.1
p.Q80insFs
c.238_239insG
1 paper
NM_001393989.1
p.Q80K
c.238C>A
3 papers
NM_001393989.1
p.Q79Q
c.237G>A
1 paper
NM_001393989.1
p.Q80P
c.239A>C
1 paper
NM_001393989.1
p.Q80insFs
c.239_240insG
1 paper
NM_001393989.1
p.Q80insFs
c.239_240insC
2 papers
NM_001393989.1
p.Q79L
c.236A>T
1 paper
NM_001393989.1
p.Q79R
c.236A>G
3 papers
NM_001393989.1
p.Q79delFs
c.235delG
3 papers
NM_001393989.1
p.Q79*
c.235C>T
1 paper
NM_001393989.1
p.Q81*
c.241C>T
1 paper
NM_001393989.1
p.Q81E
c.241C>G
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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."