Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.Q101K

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.Q101K
c.301C>A
Surrounding Variants
1 paper
NM_001393989.1
p.Q101P
c.302A>C
1 paper
NM_001393989.1
p.Q101H
c.303G>T
1 paper
NM_001393989.1
p.Q101H
c.303G>C
1 paper
NM_001393989.1
p.Q96_Q101del0
c.287_301del15
2 papers
NM_001393989.1
p.Q100R
c.299A>G
1 paper
NM_001393989.1
p.Q100*
c.298C>T
1 paper
NM_001393989.1
p.Q102K
c.304C>A
2 papers
NM_001393989.1
p.G99G
c.297C>G
1 paper
NM_001393989.1
p.G99A
c.296G>C
1 paper
NM_001393989.1
p.G99D
c.296G>A
1 paper
NM_001393989.1
p.Q102Q
c.306A>G
2 papers
NM_001393989.1
p.Q103R
c.308A>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."