Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.A16A

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.A16A
c.48T>A
Surrounding Variants
1 paper
NM_001393989.1
p.A16V
c.47C>T
1 paper
NM_001393989.1
p.Q17K
c.49C>A
1 paper
NM_001393989.1
p.A16T
c.46G>A
2 papers
NM_001393989.1
p.Q17L
c.50A>T
1 paper
NM_001393989.1
p.Q17R
c.50A>G
2 papers
NM_001393989.1
p.Q17Q
c.51G>A
1 paper
NM_001393989.1
p.S15_A16insFs
c.45_46insT
1 paper
NM_001393989.1
p.D18N
c.52G>A
1 paper
NM_001393989.1
p.S15*
c.44C>G
1 paper
NM_001393989.1
p.S15insFs
c.44_45insG
2 papers
NM_001393989.1
p.S15A
c.43T>G
2 papers
NM_001393989.1
p.S15T
c.43T>A
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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."