Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.Q134insFs

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.Q134insFs
c.401_402insC
Surrounding Variants
1 paper
NM_001393989.1
p.Q134L
c.401A>T
1 paper
NM_001393989.1
p.G131_Q134del4
c.391_401del12
1 paper
NM_001393989.1
p.P133insFs
c.398_399insG
1 paper
NM_001393989.1
p.Q135H
c.405G>T
1 paper
NM_001393989.1
p.Q135H
c.405G>C
1 paper
NM_001393989.1
p.Q135delFs
c.404delT
1 paper
NM_001393989.1
p.P132insFs
c.396dupA
1 paper
NM_001393989.1
p.P133fs
c.397_398fs
1 paper
NM_001393989.1
p.G136A
c.407G>C
3 papers
NM_001393989.1
p.P132L
c.395C>T
1 paper
NM_001393989.1
p.P132ins2
c.395_396ins6
1 paper
NM_001393989.1
p.P132S
c.394C>T
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