Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.L2H

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
3 papers
NM_001393989.1
p.L2H
c.5T>A
Surrounding Variants
1 paper
NM_001393989.1
p.L2P
c.5T>C
1 paper
NM_001393989.1
p.M1_L2delFs
c.1_4del4
1 paper
NM_001393989.1
p.L2L
c.6T>A
2 papers
NM_001393989.1
p.L2F
c.4C>T
1 paper
NM_001393989.1
p.L2V
c.4C>G
1 paper
NM_001393989.1
p.L2insFs
c.4_5insT
1 paper
NM_001393989.1
p.L2ins1
c.4_5insTAC
1 paper
NM_001393989.1
p.L2I
c.4C>A
1 paper
NM_001393989.1
p.M1delFs
c.3delC
1 paper
NM_001393989.1
p.M1del1
c.1_2delCAT
2 papers
NM_001393989.1
p.M1I
c.3G>T
1 paper
NM_001393989.1
p.M1_L2insFs
c.3_4insT
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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."