Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.P94Q

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
2 papers
NM_001393989.1
p.P94Q
c.281C>A
Surrounding Variants
1 paper
NM_001393989.1
p.P94R
c.281C>G
1 paper
NM_001393989.1
p.P94S
c.280C>T
1 paper
NM_001393989.1
p.P94A
c.280C>G
3 papers
NM_001393989.1
p.P95S
c.283C>T
3 papers
NM_001393989.1
p.P95A
c.283C>G
13 papers
NM_001393989.1
p.G93A
c.278G>C
1 paper
NM_001393989.1
p.G93_P94insT
c.277_281ins3
1 paper
NM_001393989.1
p.G93R
c.277G>A
1 paper
NM_001393989.1
p.P95P
c.285C>G
1 paper
NM_001393989.1
p.P95P
c.285C>A
1 paper
NM_001393989.1
p.P94_P95delFs
c.280_283del4
1 paper
NM_001393989.1
p.Q92Q
c.276A>G
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