Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.P149P

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.P149P
c.447A>T
Surrounding Variants
1 paper
NM_001393989.1
p.P149_P150insFs
c.447_448ins4
1 paper
NM_001393989.1
p.P149L
c.446C>T
2 papers
NM_001393989.1
p.Q151*
c.451C>T
1 paper
NM_001393989.1
p.Q151K
c.451C>A
3 papers
NM_001393989.1
p.G148R
c.442G>C
1 paper
NM_001393989.1
p.G148R
c.442G>A
1 paper
NM_001393989.1
p.Q147delFs
c.440delT
1 paper
NM_001393989.1
p.R143_Q147del5
c.427_440del15
1 paper
NM_001393989.1
p.Q151L
c.452A>T
1 paper
NM_001393989.1
p.Q151R
c.452A>G
1 paper
NM_001393989.1
p.Q147Q
c.441A>G
1 paper
NM_001393989.1
p.Q147L
c.440A>T
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