Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.P91A

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.P91A
c.271C>G
Surrounding Variants
1 paper
NM_001393989.1
p.P91S
c.271C>T
1 paper
NM_001393989.1
p.P91T
c.271C>A
1 paper
NM_001393989.1
p.P91Q
c.272C>A
2 papers
NM_001393989.1
p.P91P
c.273A>T
3 papers
NM_001393989.1
p.K90R
c.269A>G
1 paper
NM_001393989.1
p.K90insFs
c.269_270insT
3 papers
NM_001393989.1
p.Q92*
c.274C>T
10 papers
NM_001393989.1
p.G89G
c.267A>T
1 paper
NM_001393989.1
p.Q88_G89del1
c.263_265delCCT
1 paper
NM_001393989.1
p.Q92Q
c.276A>G
1 paper
NM_001393989.1
p.G93_P94insT
c.277_281ins3
1 paper
NM_001393989.1
p.G89R
c.265G>C
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