Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.P132A

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.P132A
c.394C>G
Surrounding Variants
1 paper
NM_001393989.1
p.P132S
c.394C>T
3 papers
NM_001393989.1
p.P132L
c.395C>T
1 paper
NM_001393989.1
p.P132ins2
c.395_396ins6
2 papers
NM_001393989.1
p.G131A
c.392G>C
2 papers
NM_001393989.1
p.G131E
c.392G>A
1 paper
NM_001393989.1
p.G131R
c.391G>C
1 paper
NM_001393989.1
p.G131R
c.391G>A
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.P133insFs
c.398_399insG
1 paper
NM_001393989.1
p.Q130H
c.390A>T
1 paper
NM_001393989.1
p.Q130Q
c.390A>G
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