Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.L42I

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
9 papers
NM_001393989.1
p.L42I
c.124C>A
Surrounding Variants
2 papers
NM_001393989.1
p.L42R
c.125T>G
2 papers
NM_001393989.1
p.L42P
c.125T>C
2 papers
NM_001393989.1
p.L42Q
c.125T>A
1 paper
NM_001393989.1
p.F41delFs
c.122delA
1 paper
NM_001393989.1
p.F41S
c.122T>C
1 paper
NM_001393989.1
p.L42L
c.126A>T
1 paper
NM_001393989.1
p.F41V
c.121T>G
3 papers
NM_001393989.1
p.D43N
c.127G>A
1 paper
NM_001393989.1
p.Q40R
c.119A>G
2 papers
NM_001393989.1
p.Q40P
c.119A>C
1 paper
NM_001393989.1
p.E44Q
c.130G>C
3 papers
NM_001393989.1
p.E44K
c.130G>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."