Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.E26_D27insFs

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.E26_D27insFs
c.78_79insT
Surrounding Variants
3 papers
NM_001393989.1
p.E26D
c.78A>T
1 paper
NM_001393989.1
p.E26D
c.78A>C
1 paper
NM_001393989.1
p.E26_D27delins
c.78_79delinsAT
11 papers
NM_001393989.1
p.D27N
c.79G>A
1 paper
NM_001393989.1
p.E26G
c.77A>G
1 paper
NM_001393989.1
p.E26A
c.77A>C
2 papers
NM_001393989.1
p.E26Q
c.76G>C
5 papers
NM_001393989.1
p.E26K
c.76G>A
1 paper
NM_001393989.1
p.D27G
c.80A>G
2 papers
NM_001393989.1
p.D27A
c.80A>C
2 papers
NM_001393989.1
p.Q25Q
c.75G>A
1 paper
NM_001393989.1
p.V28F
c.82G>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."