Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.G52E

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.G52E
c.155G>A
Surrounding Variants
3 papers
NM_001393989.1
p.G52*
c.154G>T
1 paper
NM_001393989.1
p.G53R
c.157G>C
2 papers
NM_001393989.1
p.G53R
c.157G>A
1 paper
NM_001393989.1
p.L51S
c.152T>C
1 paper
NM_001393989.1
p.L51*
c.152T>A
1 paper
NM_001393989.1
p.G53V
c.158G>T
2 papers
NM_001393989.1
p.G53A
c.158G>C
1 paper
NM_001393989.1
p.L51insFs
c.151_152insC
3 papers
NM_001393989.1
p.L51M
c.151T>A
1 paper
NM_001393989.1
p.G53delFs
c.157delC
2 papers
NM_001393989.1
p.P50P
c.150T>A
2 papers
NM_001393989.1
p.P50L
c.149C>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."