Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.Q57E

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.Q57E
c.169C>G
Surrounding Variants
2 papers
NM_001393989.1
p.Q57*
c.169C>T
1 paper
NM_001393989.1
p.Q57K
c.169C>A
1 paper
NM_001393989.1
p.Q57L
c.170A>T
1 paper
NM_001393989.1
p.Q54_Q57insFs
c.160_169dup10
1 paper
NM_001393989.1
p.S56insFs
c.166dupT
1 paper
NM_001393989.1
p.S56Y
c.167C>A
8 papers
NM_001393989.1
p.Q57H
c.171A>T
4 papers
NM_001393989.1
p.Q57H
c.171A>C
1 paper
NM_001393989.1
p.S56A
c.166T>G
1 paper
NM_001393989.1
p.S56T
c.166T>A
1 paper
NM_001393989.1
p.P58T
c.172C>A
1 paper
NM_001393989.1
p.P58R
c.173C>G
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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."