Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.M1_I4del4

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.M1_I4del4
c.1_11del12
Surrounding Variants
2 papers
NM_001393989.1
p.L5L
c.13C>T
1 paper
NM_001393989.1
p.L5V
c.13C>G
2 papers
NM_001393989.1
p.L5M
c.13C>A
1 paper
NM_001393989.1
p.L5insFs
c.14_15insA
2 papers
NM_001393989.1
p.L5P
c.14T>C
1 paper
NM_001393989.1
p.I4I
c.12T>C
3 papers
NM_001393989.1
p.I4I
c.12T>A
1 paper
NM_001393989.1
p.L5Q
c.14T>A
2 papers
NM_001393989.1
p.I4N
c.11T>A
1 paper
NM_001393989.1
p.L5L
c.15G>T
1 paper
NM_001393989.1
p.L5_L6insFs
c.15_16insA
3 papers
NM_001393989.1
p.L5L
c.15G>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."