Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.S59A

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.S59A
c.175T>G
Surrounding Variants
1 paper
NM_001393989.1
p.S59ins5
c.175_176ins15
1 paper
NM_001393989.1
p.S59P
c.175T>C
3 papers
NM_001393989.1
p.S59T
c.175T>A
2 papers
NM_001393989.1
p.S59F
c.176C>T
1 paper
NM_001393989.1
p.P58_S59insFs
c.174_175insT
1 paper
NM_001393989.1
p.S59Y
c.176C>A
2 papers
NM_001393989.1
p.S59delFs
c.176delG
1 paper
NM_001393989.1
p.P58R
c.173C>G
1 paper
NM_001393989.1
p.A60_G61insAGC
c.178_182ins9
1 paper
NM_001393989.1
p.A60P
c.178G>C
1 paper
NM_001393989.1
p.P58T
c.172C>A
1 paper
NM_001393989.1
p.A60V
c.179C>T
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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."