Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.E45*

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.E45*
c.133G>T
Surrounding Variants
1 paper
NM_001393989.1
p.E45Q
c.133G>C
3 papers
NM_001393989.1
p.E45K
c.133G>A
1 paper
NM_001393989.1
p.E44E
c.132G>A
1 paper
NM_001393989.1
p.E45V
c.134A>T
1 paper
NM_001393989.1
p.E45G
c.134A>G
2 papers
NM_001393989.1
p.E45A
c.134A>C
2 papers
NM_001393989.1
p.E45D
c.135G>T
2 papers
NM_001393989.1
p.E45D
c.135G>C
1 paper
NM_001393989.1
p.E44_E45delFs
c.131_134del4
1 paper
NM_001393989.1
p.E44A
c.131A>C
1 paper
NM_001393989.1
p.E44Q
c.130G>C
3 papers
NM_001393989.1
p.E44K
c.130G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."