Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.G169insFs

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.G169insFs
c.506_507insT
Surrounding Variants
1 paper
NM_001393989.1
p.G169E
c.506G>A
1 paper
NM_001393989.1
p.G169_P170insFs
c.507_508insT
1 paper
NM_001393989.1
p.G169insFs
c.506dupG
1 paper
NM_001393989.1
p.G169fs
c.505_506fs
1 paper
NM_001393989.1
p.K166_G169del0
c.498_506del9
1 paper
NM_001393989.1
p.P170S
c.508C>T
1 paper
NM_001393989.1
p.P170L
c.509C>T
1 paper
NM_001393989.1
p.Q168insFs
c.503_504insT
1 paper
NM_001393989.1
p.P167delFs
c.500delG
1 paper
NM_001393989.1
p.P170_P171insFs
c.510_511insG
4 papers
NM_001393989.1
p.P171S
c.511C>T
1 paper
NM_001393989.1
p.P172S
c.514C>T
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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."